Growth Disorders: Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth.Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Body Height: The distance from the sole to the crown of the head with body standing on a flat surface and fully extended.Turner Syndrome: A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.Age Determination by Skeleton: Establishment of the age of an individual by examination of their skeletal structure.Osteochondrodysplasias: Abnormal development of cartilage and bone.Dwarfism, Pituitary: A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development.Abnormalities, MultipleNoonan Syndrome: A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, CRYPTORCHIDISM, multiple cardiac abnormalities (most commonly including PULMONARY VALVE STENOSIS), and some degree of INTELLECTUAL DISABILITY. The phenotype bears similarities to that of TURNER SYNDROME that occurs only in females and has its basis in a 45, X karyotype abnormality. Noonan syndrome occurs in both males and females with a normal karyotype (46,XX and 46,XY). Mutations in a several genes (PTPN11, KRAS, SOS1, NF1 and RAF1) have been associated the the NS phenotype. Mutations in PTPN11 are the most common. LEOPARD SYNDROME, a disorder that has clinical features overlapping those of Noonan Syndrome, is also due to mutations in PTPN11. In addition, there is overlap with the syndrome called neurofibromatosis-Noonan syndrome due to mutations in NF1.Bone Diseases, DevelopmentalSyndrome: A characteristic symptom complex.Human Growth Hormone: A 191-amino acid polypeptide hormone secreted by the human adenohypophysis (PITUITARY GLAND, ANTERIOR), also known as GH or somatotropin. Synthetic growth hormone, termed somatropin, has replaced the natural form in therapeutic usage such as treatment of dwarfism in children with growth hormone deficiency.Microcephaly: A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)Puberty, Delayed: The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not.Intellectual Disability: Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)Gonadal Dysgenesis, Mixed: A type of defective gonadal development in patients with a wide spectrum of chromosomal mosaic variants. Their karyotypes are of partial sex chromosome monosomy resulting from an absence or an abnormal second sex chromosome (X or Y). Karyotypes include 45,X/46,XX; 45,X/46,XX/47,XXX; 46,XXp-; 45,X/46,XY; 45,X/47,XYY; 46,XYpi; etc. The spectrum of phenotypes may range from phenotypic female to phenotypic male including variations in gonads and internal and external genitalia, depending on the ratio in each gonad of 45,X primordial germ cells to those with normal 46,XX or 46,XY constitution.Growth Hormone: A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized.Puberty: A period in the human life in which the development of the hypothalamic-pituitary-gonadal system takes place and reaches full maturity. The onset of synchronized endocrine events in puberty lead to the capacity for reproduction (FERTILITY), development of secondary SEX CHARACTERISTICS, and other changes seen in ADOLESCENT DEVELOPMENT.Metacarpus: The region of the HAND between the WRIST and the FINGERS.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Hypertrichosis: Excessive hair growth at inappropriate locations, such as on the extremities, the head, and the back. It is caused by genetic or acquired factors, and is an androgen-independent process. This concept does not include HIRSUTISM which is an androgen-dependent excess hair growth in WOMEN and CHILDREN.Laron Syndrome: An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. Laron syndrome is not a form of primary pituitary dwarfism (GROWTH HORMONE DEFICIENCY DWARFISM) but the result of mutation of the human GHR gene on chromosome 5.Cephalopelvic Disproportion: A condition in which the HEAD of the FETUS is larger than the mother's PELVIS through which the fetal head must pass during a vaginal delivery.Consanguinity: The magnitude of INBREEDING in humans.Growth Charts: Graphic displays of height and weight showing development over time.Puberty, Precocious: Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE.Dysostoses: Defective bone formation involving individual bones, singly or in combination.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Failure to Thrive: A condition of substandard growth or diminished capacity to maintain normal function.Face: The anterior portion of the head that includes the skin, muscles, and structures of the forehead, eyes, nose, mouth, cheeks, and jaw.Facial Bones: The facial skeleton, consisting of bones situated between the cranial base and the mandibular region. While some consider the facial bones to comprise the hyoid (HYOID BONE), palatine (HARD PALATE), and zygomatic (ZYGOMA) bones, MANDIBLE, and MAXILLA, others include also the lacrimal and nasal bones, inferior nasal concha, and vomer but exclude the hyoid bone. (Jablonski, Dictionary of Dentistry, 1992, p113)Osteopoikilosis: An asymptomatic, autosomal dominant trait in which pea-sized sclerotic spots, prominent in the metaphyseal area, are accompanied by unique cutaneous lesions. These are yellowish papules or plaques with increased elastin content. (From Cecil Textbook of Medicine, 19th ed, pp1434-35)Sex Chromosome Aberrations: Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT.Cleidocranial Dysplasia: Autosomal dominant syndrome in which there is delayed closing of the CRANIAL FONTANELLES; complete or partial absence of the collarbones (CLAVICLES); wide PUBIC SYMPHYSIS; short middle phalanges of the fifth fingers; and dental and vertebral anomalies.Pelger-Huet Anomaly: Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Mental Retardation, X-Linked: A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS).Lipoid Proteinosis of Urbach and Wiethe: An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN.Karyotyping: Mapping of the KARYOTYPE of a cell.Insulin-Like Growth Factor I: A well-characterized basic peptide believed to be secreted by the liver and to circulate in the blood. It has growth-regulating, insulin-like, and mitogenic activities. This growth factor has a major, but not absolute, dependence on GROWTH HORMONE. It is believed to be mainly active in adults in contrast to INSULIN-LIKE GROWTH FACTOR II, which is a major fetal growth factor.Chromosome Disorders: Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)Anthropometry: The technique that deals with the measurement of the size, weight, and proportions of the human or other primate body.Limb Deformities, Congenital: Congenital structural deformities of the upper and lower extremities collectively or unspecified.Bone Development: The growth and development of bones from fetus to adult. It includes two principal mechanisms of bone growth: growth in length of long bones at the epiphyseal cartilages and growth in thickness by depositing new bone (OSTEOGENESIS) with the actions of OSTEOBLASTS and OSTEOCLASTS.Growth: Gradual increase in the number, the size, and the complexity of cells of an individual. Growth generally results in increase in ORGAN WEIGHT; BODY WEIGHT; and BODY HEIGHT.Infant, Newborn: An infant during the first month after birth.Pseudohypoparathyroidism: A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN.Chromosomes, Human, X: The human female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in humans.Pigmentation DisordersArm Bones: The bones of the free part of the upper extremity including the HUMERUS; RADIUS; and ULNA.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Facies: The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)Homeodomain Proteins: Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).Brachydactyly: Congenital anomaly of abnormally short fingers or toes.Optic Atrophy: Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.Haploinsufficiency: A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with abnormal phenotypes or diseased states because the remaining gene is insufficient.Chromosome Deletion: Actual loss of portion of a chromosome.Hypopituitarism: Diminution or cessation of secretion of one or more hormones from the anterior pituitary gland (including LH; FOLLICLE STIMULATING HORMONE; SOMATOTROPIN; and CORTICOTROPIN). This may result from surgical or radiation ablation, non-secretory PITUITARY NEOPLASMS, metastatic tumors, infarction, PITUITARY APOPLEXY, infiltrative or granulomatous processes, and other conditions.Schizoid Personality Disorder: A personality disorder manifested by a profound defect in the ability to form social relationships, no desire for social involvement, and an indifference to praise or criticism.Bone Lengthening: Increase in the longest dimension of a bone to correct anatomical deficiencies, congenital, traumatic, or as a result of disease. The lengthening is not restricted to long bones. The usual surgical methods are internal fixation and distraction.Musculoskeletal Abnormalities: Congenital structural abnormalities and deformities of the musculoskeletal system.Osteogenesis, Distraction: Bone lengthening by gradual mechanical distraction. An external fixation device produces the distraction across the bone plate. The technique was originally applied to long bones but in recent years the method has been adapted for use with mandibular implants in maxillofacial surgery.Receptors, Somatotropin: Cell surface proteins that bind GROWTH HORMONE with high affinity and trigger intracellular changes influencing the behavior of cells. Activation of growth hormone receptors regulates amino acid transport through cell membranes, RNA translation to protein, DNA transcription, and protein and amino acid catabolism in many cell types. Many of these effects are mediated indirectly through stimulation of the release of somatomedins.Child Nutrition Disorders: Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years.Bone and Bones: A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Endocrine System Diseases: Pathological processes of the ENDOCRINE GLANDS, and diseases resulting from abnormal level of available HORMONES.Ring Chromosomes: Aberrant chromosomes with no ends, i.e., circular.Body Weight: The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms.Micrognathism: Abnormally small jaw.Ilizarov Technique: A bone fixation technique using an external fixator (FIXATORS, EXTERNAL) for lengthening limbs, correcting pseudarthroses and other deformities, and assisting the healing of otherwise hopeless traumatic or pathological fractures and infections, such as chronic osteomyelitis. The method was devised by the Russian orthopedic surgeon Gavriil Abramovich Ilizarov (1921-1992). (From Bull Hosp Jt Dis 1992 Summer;52(1):1)X Chromosome: The female sex chromosome, being the differential sex chromosome carried by half the male gametes and all female gametes in human and other male-heterogametic species.Codon, Nonsense: An amino acid-specifying codon that has been converted to a stop codon (CODON, TERMINATOR) by mutation. Its occurance is abnormal causing premature termination of protein translation and results in production of truncated and non-functional proteins. A nonsense mutation is one that converts an amino acid-specific codon to a stop codon.Homozygote: An individual in which both alleles at a given locus are identical.Chondrodysplasia Punctata: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.Chromosome Mapping: Any method used for determining the location of and relative distances between genes on a chromosome.Hormone Replacement Therapy: Therapeutic use of hormones to alleviate the effects of hormone deficiency.Nephrocalcinosis: A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY.Hypogonadism: Condition resulting from deficient gonadal functions, such as GAMETOGENESIS and the production of GONADAL STEROID HORMONES. It is characterized by delay in GROWTH, germ cell maturation, and development of secondary sex characteristics. Hypogonadism can be due to a deficiency of GONADOTROPINS (hypogonadotropic hypogonadism) or due to primary gonadal failure (hypergonadotropic hypogonadism).Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Ellis-Van Creveld Syndrome: Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)Rothmund-Thomson Syndrome: An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.Genu Valgum: An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING).Child Development: The continuous sequential physiological and psychological maturing of an individual from birth up to but not including ADOLESCENCE.Sodium Benzoate: The sodium salt of BENZOIC ACID. It is used as an antifungal preservative in pharmaceutical preparations and foods. It may also be used as a test for liver function.Skin Abnormalities: Congenital structural abnormalities of the skin.Mouth Abnormalities: Congenital absence of or defects in structures of the mouth.Developmental Disabilities: Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)Reference Values: The range or frequency distribution of a measurement in a population (of organisms, organs or things) that has not been selected for the presence of disease or abnormality.Oxymetholone: A synthetic hormone with anabolic and androgenic properties. It is used mainly in the treatment of anemias. According to the Fourth Annual Report on Carcinogens (NTP 85-002), this compound may reasonably be anticipated to be a carcinogen. (From Merck Index, 11th ed)Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Prader-Willi Syndrome: An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Rubinstein-Taybi Syndrome: A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).Insulin-Like Growth Factor Binding Protein 3: One of the six homologous soluble proteins that bind insulin-like growth factors (SOMATOMEDINS) and modulate their mitogenic and metabolic actions at the cellular level.External Fixators: External devices which hold wires or pins that are placed through one or both cortices of bone in order to hold the position of a fracture in proper alignment. These devices allow easy access to wounds, adjustment during the course of healing, and more functional use of the limbs involved.Chromosomes, Human, Y: The human male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans.Livedo Reticularis: A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming.Exome: That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.Foot Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth.Leg Length Inequality: A condition in which one of a pair of legs fails to grow as long as the other, which could result from injury or surgery.Acidosis, Renal Tubular: A group of genetic disorders of the KIDNEY TUBULES characterized by the accumulation of metabolically produced acids with elevated plasma chloride, hyperchloremic metabolic ACIDOSIS. Defective renal acidification of URINE (proximal tubules) or low renal acid excretion (distal tubules) can lead to complications such as HYPOKALEMIA, hypercalcinuria with NEPHROLITHIASIS and NEPHROCALCINOSIS, and RICKETS.Protein Tyrosine Phosphatase, Non-Receptor Type 11: A subtype of non-receptor protein tyrosine phosphatases that contain two SRC HOMOLOGY DOMAINS. Mutations in the gene for protein tyrosine phosphatase, non-receptor type 11 are associated with NOONAN SYNDROME.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Infant, Small for Gestational Age: An infant having a birth weight lower than expected for its gestational age.Y Chromosome: The male sex chromosome, being the differential sex chromosome carried by half the male gametes and none of the female gametes in humans and in some other male-heterogametic species in which the homologue of the X chromosome has been retained.Growth Plate: The area between the EPIPHYSIS and the DIAPHYSIS within which bone growth occurs.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Growth Hormone-Releasing Hormone: A peptide of 44 amino acids in most species that stimulates the release and synthesis of GROWTH HORMONE. GHRF (or GRF) is synthesized by neurons in the ARCUATE NUCLEUS of the HYPOTHALAMUS. After being released into the pituitary portal circulation, GHRF stimulates GH release by the SOMATOTROPHS in the PITUITARY GLAND.Saudi ArabiaAdolescent Development: The continuous sequential physiological and psychological changes during ADOLESCENCE, approximately between the age of 13 and 18.Stanozolol: A synthetic steroid that has anabolic and androgenic properties. (From Martindale, The Extra Pharmacopoeia, 30th ed, p1194)LEOPARD Syndrome: An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.Exocrine Pancreatic Insufficiency: A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS.Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus.Genetic Linkage: The co-inheritance of two or more non-allelic GENES due to their being located more or less closely on the same CHROMOSOME.Chromosomes, Human, Pair 15: A specific pair of GROUP D CHROMOSOMES of the human chromosome classification.Cartilage Oligomeric Matrix Protein: Major component of chondrocyte EXTRACELLULAR MATRIX of various tissues including bone, tendon, ligament, SYNOVIUM and blood vessels. It binds MATRILIN PROTEINS and is associated with development of cartilage and bone.Matrilin Proteins: PROTEOGLYCANS-associated proteins that are major components of EXTRACELLULAR MATRIX of various tissues including CARTILAGE; and INTERVERTEBRAL DISC structures. They bind COLLAGEN fibers and contain protein domains that enable oligomer formation and interaction with other extracellular matrix proteins such as CARTILAGE OLIGOMERIC MATRIX PROTEIN.In Situ Hybridization, Fluorescence: A type of IN SITU HYBRIDIZATION in which target sequences are stained with fluorescent dye so their location and size can be determined using fluorescence microscopy. This staining is sufficiently distinct that the hybridization signal can be seen both in metaphase spreads and in interphase nuclei.Chromosomes, Human, Pair 2: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Fibrous Dysplasia, Polyostotic: FIBROUS DYSPLASIA OF BONE affecting several bones. When melanotic pigmentation (CAFE-AU-LAIT SPOTS) and multiple endocrine hyperfunction are additionally associated it is referred to as Albright syndrome.Pituitary Hormones: Hormones secreted by the PITUITARY GLAND including those from the anterior lobe (adenohypophysis), the posterior lobe (neurohypophysis), and the ill-defined intermediate lobe. Structurally, they include small peptides, proteins, and glycoproteins. They are under the regulation of neural signals (NEUROTRANSMITTERS) or neuroendocrine signals (HYPOTHALAMIC HORMONES) from the hypothalamus as well as feedback from their targets such as ADRENAL CORTEX HORMONES; ANDROGENS; ESTROGENS.Chromosomes, Human, 13-15: The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15.Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair.Chromosome Banding: Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping.Spine: The spinal or vertebral column.Family Health: The health status of the family as a unit including the impact of the health of one member of the family on the family as a unit and on individual family members; also, the impact of family organization or disorganization on the health status of its members.Cohort Studies: Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.Siblings: Persons or animals having at least one parent in common. (American College Dictionary, 3d ed)Chromosome Aberrations: Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS.Fetal Growth Retardation: The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE.Sequence Deletion: Deletion of sequences of nucleic acids from the genetic material of an individual.Progeria: An abnormal congenital condition, associated with defects in the LAMIN TYPE A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur. It is manifested by premature greying; hair loss; hearing loss (DEAFNESS); cataracts (CATARACT); ARTHRITIS; OSTEOPOROSIS; DIABETES MELLITUS; atrophy of subcutaneous fat; skeletal hypoplasia; elevated urinary HYALURONIC ACID; and accelerated ATHEROSCLEROSIS. Many affected individuals develop malignant tumors, especially SARCOMA.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Retrospective Studies: Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Celiac Disease: A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.Hormones: Chemical substances having a specific regulatory effect on the activity of a certain organ or organs. The term was originally applied to substances secreted by various ENDOCRINE GLANDS and transported in the bloodstream to the target organs. It is sometimes extended to include those substances that are not produced by the endocrine glands but that have similar effects.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Age Factors: Age as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or the effect of a circumstance. It is used with human or animal concepts but should be differentiated from AGING, a physiological process, and TIME FACTORS which refers only to the passage of time.Neurofibromatosis 1: An autosomal dominant inherited disorder (with a high frequency of spontaneous mutations) that features developmental changes in the nervous system, muscles, bones, and skin, most notably in tissue derived from the embryonic NEURAL CREST. Multiple hyperpigmented skin lesions and subcutaneous tumors are the hallmark of this disease. Peripheral and central nervous system neoplasms occur frequently, especially OPTIC NERVE GLIOMA and NEUROFIBROSARCOMA. NF1 is caused by mutations which inactivate the NF1 gene (GENES, NEUROFIBROMATOSIS 1) on chromosome 17q. The incidence of learning disabilities is also elevated in this condition. (From Adams et al., Principles of Neurology, 6th ed, pp1014-18) There is overlap of clinical features with NOONAN SYNDROME in a syndrome called neurofibromatosis-Noonan syndrome. Both the PTPN11 and NF1 gene products are involved in the SIGNAL TRANSDUCTION pathway of Ras (RAS PROTEINS).Body Mass Index: An indicator of body density as determined by the relationship of BODY WEIGHT to BODY HEIGHT. BMI=weight (kg)/height squared (m2). BMI correlates with body fat (ADIPOSE TISSUE). Their relationship varies with age and gender. For adults, BMI falls into these categories: below 18.5 (underweight); 18.5-24.9 (normal); 25.0-29.9 (overweight); 30.0 and above (obese). (National Center for Health Statistics, Centers for Disease Control and Prevention)Follow-Up Studies: Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.Sex Factors: Maleness or femaleness as a constituent element or influence contributing to the production of a result. It may be applicable to the cause or effect of a circumstance. It is used with human or animal concepts but should be differentiated from SEX CHARACTERISTICS, anatomical or physiological manifestations of sex, and from SEX DISTRIBUTION, the number of males and females in given circumstances.Somatomedins: Insulin-like polypeptides made by the liver and some fibroblasts and released into the blood when stimulated by SOMATOTROPIN. They cause sulfate incorporation into collagen, RNA, and DNA synthesis, which are prerequisites to cell division and growth of the organism.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.Genetic Diseases, X-Linked: Genetic diseases that are linked to gene mutations on the X CHROMOSOME in humans (X CHROMOSOME, HUMAN) or the X CHROMOSOME in other species. Included here are animal models of human X-linked diseases.Sequence Analysis, DNA: A multistage process that includes cloning, physical mapping, subcloning, determination of the DNA SEQUENCE, and information analysis.Nutrition Disorders: Disorders caused by nutritional imbalance, either overnutrition or undernutrition.Chromosomes, Human, Pair 3: A specific pair of human chromosomes in group A (CHROMOSOMES, HUMAN, 1-3) of the human chromosome classification.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Birth Weight: The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms.Cross-Sectional Studies: Studies in which the presence or absence of disease or other health-related variables are determined in each member of the study population or in a representative sample at one particular time. This contrasts with LONGITUDINAL STUDIES which are followed over a period of time.Clonidine: An imidazoline sympatholytic agent that stimulates ALPHA-2 ADRENERGIC RECEPTORS and central IMIDAZOLINE RECEPTORS. It is commonly used in the management of HYPERTENSION.Chromosomes, Human, Pair 4: A specific pair of GROUP B CHROMOSOMES of the human chromosome classification.Risk Factors: An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.Nutritional Status: State of the body in relation to the consumption and utilization of nutrients.Parents: Persons functioning as natural, adoptive, or substitute parents. The heading includes the concept of parenthood as well as preparation for becoming a parent.Translocation, Genetic: A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome.Tibia: The second longest bone of the skeleton. It is located on the medial side of the lower leg, articulating with the FIBULA laterally, the TALUS distally, and the FEMUR proximally.Polymorphism, Single Nucleotide: A single nucleotide variation in a genetic sequence that occurs at appreciable frequency in the population.Microsatellite Repeats: A variety of simple repeat sequences that are distributed throughout the GENOME. They are characterized by a short repeat unit of 2-8 basepairs that is repeated up to 100 times. They are also known as short tandem repeats (STRs).Regression Analysis: Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.Hypothyroidism: A syndrome that results from abnormally low secretion of THYROID HORMONES from the THYROID GLAND, leading to a decrease in BASAL METABOLIC RATE. In its most severe form, there is accumulation of MUCOPOLYSACCHARIDES in the SKIN and EDEMA, known as MYXEDEMA.Pituitary Gland: A small, unpaired gland situated in the SELLA TURCICA. It is connected to the HYPOTHALAMUS by a short stalk which is called the INFUNDIBULUM.Extracellular Matrix Proteins: Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).Femur: The longest and largest bone of the skeleton, it is situated between the hip and the knee.Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.Infant, Low Birth Weight: An infant having a birth weight of 2500 gm. (5.5 lb.) or less but INFANT, VERY LOW BIRTH WEIGHT is available for infants having a birth weight of 1500 grams (3.3 lb.) or less.Treatment Outcome: Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.Receptor, IGF Type 1: A protein-tyrosine kinase receptor that is closely related in structure to the INSULIN RECEPTOR. Although commonly referred to as the IGF-I receptor, it binds both IGF-I and IGF-II with high affinity. It is comprised of a tetramer of two alpha and two beta subunits which are derived from cleavage of a single precursor protein. The beta subunit contains an intrinsic tyrosine kinase domain.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Genetic Markers: A phenotypically recognizable genetic trait which can be used to identify a genetic locus, a linkage group, or a recombination event.Haploidy: The chromosomal constitution of cells, in which each type of CHROMOSOME is represented once. Symbol: N.Socioeconomic Factors: Social and economic factors that characterize the individual or group within the social structure.Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Genetic Association Studies: The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.Body Composition: The relative amounts of various components in the body, such as percentage of body fat.Parity: The number of offspring a female has borne. It is contrasted with GRAVIDITY, which refers to the number of pregnancies, regardless of outcome.Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more AMINO ACIDS in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish, enhance, or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties.Social Adjustment: Adaptation of the person to the social environment. Adjustment may take place by adapting the self to the environment or by changing the environment. (From Campbell, Psychiatric Dictionary, 1996)Carrier Proteins: Transport proteins that carry specific substances in the blood or across cell membranes.DNA: A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).Sex Chromosome Disorders: Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment).Chondrocytes: Polymorphic cells that form cartilage.Obesity: A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).Cartilage: A non-vascular form of connective tissue composed of CHONDROCYTES embedded in a matrix that includes CHONDROITIN SULFATE and various types of FIBRILLAR COLLAGEN. There are three major types: HYALINE CARTILAGE; FIBROCARTILAGE; and ELASTIC CARTILAGE.Blotting, Southern: A method (first developed by E.M. Southern) for detection of DNA that has been electrophoretically separated and immobilized by blotting on nitrocellulose or other type of paper or nylon membrane followed by hybridization with labeled NUCLEIC ACID PROBES.Body Size: The physical measurements of a body.BrazilAnthropology, Physical: The comparative science dealing with the physical characteristics of humans as related to their origin, evolution, and development in the total environment.Obstetric Surgical Procedures: Surgery performed on the pregnant woman for conditions associated with pregnancy, labor, or the puerperium. It does not include surgery of the newborn infant.Intelligence: The ability to learn and to deal with new situations and to deal effectively with tasks involving abstractions.Bone Density: The amount of mineral per square centimeter of BONE. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is most frequently measured by X-RAY ABSORPTIOMETRY or TOMOGRAPHY, X RAY COMPUTED. Bone density is an important predictor for OSTEOPOROSIS.Eunuchism: The state of being a eunuch, a male without TESTES or whose testes failed to develop. It is characterized by the lack of mature male GERM CELLS and TESTICULAR HORMONES.
Furthermore, alterations in the thyroid hormone pathway can cause short stature. We therefore suggest that short stature in ... The short stature of Pygmy groups around the world has long intrigued anthropologists. It is generally accepted that their ... Various hypotheses have been proposed to explain the short stature of African pygmies. Blecker, et al., suggest African ... He argued that the short stature of Pygmy populations can arise relatively quickly (in less than a few millenia) under strong ...
Short stature. Further information: Short stature and Human height. Various theories have been proposed to explain the short ... The term pygmyism is used to describe the phenotype of endemic short stature (as opposed to disproportionate dwarfism occurring ... The difference between the two groups may indicate the Pygmies' short stature did not start with their common ancestor, but ... Negritos share some common physical features with African pygmy populations, including short stature and dark skin. The name " ...
Short stature is common. The symptoms of the disease are thought to be caused by an abnormality in the desmosome-keratin ... Even in mild forms, short stature combined with poorly formed fingernails containing vertical striations are diagnostic. Darier ...
"Short Stature, Long Range". Bolt Action Rifles - 4th Edition. Krause Publications. pp. 636-643. ISBN 978-0-87349-660-5. http:// ... www.cabelas.com/story-123/boddington_short_mag/10201/The+Short+Mag+Revolution.shtml The Short Mag Revolution Archived March 16 ... Short, fat cases also allow short-action weapons to be made lighter and stronger for the same level of performance. The trade- ... Short-range target guns usually are chambered for .22 Long Rifle or .22 Short, which have very tiny powder capacities and ...
De Haas, Frank; van Zwoll, Wayne (2003). "Short Stature, Long Range". Bolt Action Rifles - 4th Edition. Krause Publications. pp ... its short length enables action makers to utilise shorter ports to increase rigidity; and cases are easily formed and loaded.[ ... The cartridge features a short fat case which is reputed to be both efficient and accurate. The large powder capacity of the ... however the cartridge is considered overbore and can be expected to have a relatively short barrel life. The inherent accuracy ...
"Short Stature, Long Range". Bolt Action Rifles - 4th Edition. Krause Publications. pp. 636-643. ISBN 978-0-87349-660-5. Barnes ... It is one of the earlier cartridges to follow the short, fat design concept. Short fat cartridges have characteristics that ... ISBN 978-0-87349-939-2. The same cartridge in the short action Remington Model 700 rifle and Model Seven carbine would be ...
Farish, p. 284 Farish, p. 286 Leighton, David (January 29, 2013). "Street Smarts: Brady Ave is short; namesake had stature". ... Following a short service in the United States Navy he joined the Texas Rangers, where he served during the Mexican-American ... At the end of the war he lived for a short time in Jalisco, Mexico before returning to Texas. In 1847, Brady served as a member ...
A short stature is common. Aside from the physical characteristics of the eyes there is also less sensation in the eyes when ... Most people with Gomez-Lopez-Hernandez Syndrome are consistently low weight (3rd-25th percentile) and low stature due to a ... People with Gomez-Lopez-Hernandez Syndrome often have these physical characteristics: short skull(brachycephaly), thin lips, ... signaling that the perceived prevalence in Latin America may be short-lived as better diagnostic techniques and information ...
Short stature may be present. Obesity is less common in pseudopseudohypoparathyroidism than in pseudohypoparathyroidism. ... including short stature, brachydactyly, subcutaneous calcification, and obesity. Pseudopseudohypoparathyroidism can be best ...
It is one of the rare causes of short stature. It is closely related with trigonocephaly (a misshapen forehead due to premature ... It is a disorder that is mostly characterized as developmental delay and short stature. Magnetic resonance imaging scans ... Say-Meyer syndrome has both facial and cranial deformities as well as short stature and developmental delay. "Hypertelorism". ... "Trigonocephaly - short stature - developmental delay". Retrieved 23 October 2013. "Hypertelorism". Retrieved 23 October 2013. ...
He was of short stature. In 1857 he published 'Memoirs of the Life and Writings of J. A. Paris, M.D.', on John Ayrton Paris, ...
The disease consistently causes short stature. The height of adult males with the disease is less than 150 cm (59 in). Adult ... to be unusually short; and delays the normal closure of the connections (sutures) of the skull bones in infancy, so that the " ... females with the syndrome are even shorter. The disease has been named Toulouse-Lautrec syndrome, after the French artist Henri ...
The Basset's short legs are due to a form of dwarfism (see: Health). Their short stature can be deceiving; Bassets are ... The Basset Hound was bred to hunt, with a keen nose and short stature suited to small-game hunting on foot. A variety of Basset ... The Basset Hound's short stature is due to the genetic condition osteochondrodysplasia (meaning abnormal growth of both bone ... Bassets are large, short, solid and long, with curved sabre tails held high over their long backs. An adult dog weighs between ...
In stature he was very short." He was buried in Glasnevin Cemetery. Irish Pedigrees; or the Origin and Stem of the Irish Nation ...
Short stature homeobox 2, also known as homeobox protein Og12X or paired-related homeobox protein SHOT, is a protein that in ... This locus represents a pseudoautosomal homeobox gene that is thought to be responsible for idiopathic short stature, and it is ... short stature homeobox 2". Blaschke RJ; Monaghan AP; Schiller S; Schechinger B; Rao E; Padilla-Nash H; Ried T; Rappold GA ( ... implicated in the short stature phenotype of Turner syndrome patients. This gene is considered to be a candidate gene for ...
Short of stature, he became an opening batsman, strong on the back foot and against the short ball. He made his first-class ... Thawfeeq, Sa'adi (1 August 2010). "Kodda - short in stature but effectual". The Nation. Retrieved 24 February 2017. "Ceylon ...
Thawfeeq, Sa'adi (1 August 2010). "Kodda - short in stature but effectual". The Nation. Retrieved 24 February 2017. Ceylon in ...
Alley was short, only 5'1" in stature. In her later years she was known as "Miss Louise". Alley graduated ifrom the Roman ...
Charlene Chua (September 1, 2012). "Short in stature, but not on performance". The New Paper. Retrieved July 6, 2013. "Miss ...
Children experience growth retardation and short stature. Adrenocorticotropic hormone (ACTH) deficiency leads to adrenal ...
They are of medium or short stature. The Savara villages consist of houses with mud walls and sedge grass roofs, usually ...
His nickname came from his short stature. According to professional thief Shirley Pitts, he had to attach wooden blocks to the ...
Reginelli's nickname came from his short stature. Born in Nepezzano in the Abruzzo region of Italy, Reginelli immigrated to the ...
... affected individuals often have a short stature. Depending on their location the exostoses can cause the following problems: ... EXT1 which maps to chromosome 8q24.1 EXT2 which maps to 11p13 EXT3 which maps to the short arm of Chromosome 19 (though its ...
Charlene Chua (September 1, 2012). "Short in stature, but not on performance". The New Paper. Retrieved July 6, 2013. From ...
This criterion failed for persons of short stature. In 1991, the National Institutes of Health (NIH) sponsored a consensus ... Effective short-term use of antibiotics, diligent respiratory therapy, and encouragement of activity within a few hours after ... shorter recovery time, less scarring, and minimal risk of incisional hernia. The gastric bypass procedure consists of: Creation ...
When the cause is unknown, it is called idiopathic short stature. Short stature can also be caused by the bone plates fusing ... The most common causes of short stature in childhood are constitutional growth delay or familial short stature. ... have worked to medicalize short stature by convincing the public that short stature is a disease rather than a natural ... Short stature refers to a height of a human being which is below typical. Whether a person is considered short depends on the ...
She is of short stature by birth defect. On December 6, 2012, she married to Bayram Kaya, and changed her surname to her ... Kaya's disability swimming classification is S6 according to her short stature by birth defect. Currently, the 1.32 m (4 ft 4 ...
Noonan syndrome is characterized by facial features, short stature, congenital heart defect, and developmental delay. Other ...
... and short stature. The locus for this disease was mapped to chromosome 6p21. RUNX2 is a member of the runt family of ...
When the cause is unknown, it is called idiopathic short stature. Short stature can also be caused by the bone plates fusing ... The most common causes of short stature in childhood are constitutional growth delay or familial short stature. ... have worked to medicalize short stature by convincing the public that short stature is a disease rather than a natural ... Short stature refers to a height of a human being which is below typical. Whether a person is considered short depends on the ...
A child who has short stature is much shorter than children who are the same age and sex. ... Talk with you if you are worried that your child is shorter than other children. If your child has short stature, this does not ... A child who has short stature is much shorter than children who are the same age and sex. ... A child with short statures height is:. *Two standard deviations (SD) or more below the average height for children of the ...
What are the Tests for Short Stature?. The doctor will go over your childs medical and family history and physical examination ...
Dwarfism and short stature information, links to national and international support groups, lay advocacy organizations, clinics ... Short Stature Foundation 17200 Jamboree Rd, Suite J, Irvine, CA 92714-5828 Phone: (800) 243-9273 Fax: (714) 261-9035 Magic ... The organization was founded in 1976, under another name, by people of short stature. Little People of Ontario P. O. Box 43072 ... Dwarfism / Short Stature Links, Birth Disorder Information Directory (BDID.com), search for specific diagnosis ...
... is a disorder of short stature or growth failure and/or delayed puberty of infancy, childhood, and adolescence that is observed ... encoded search term (Psychosocial Short Stature) and Psychosocial Short Stature What to Read Next on Medscape. Related ... Psychosocial Short Stature Medication. Updated: Aug 09, 2018 * Author: Andrew P Sirotnak, MD; Chief Editor: Caroly Pataki, MD ... Short stature associated with maternal deprivation syndrome: disordered family environment as cause of so-called idiopathic ...
Short stature is a general term used to describe a condition in which a child or a teens height is well below the average ... Short Stature. Facebook Twitter Linkedin Pinterest Print. Endocrine System What is short stature?. Short stature is a general ... Short stature typically means that a persons height is below that of the shortest 3 percent to 5 percent of children of the ... Short stature does not cause any symptoms other than the obvious finding of short height. If there is an underlying disorder ...
Short stature is a general term for people whose height is considerably below average compared to the height of their peers. ... What Causes Short Stature? The three major reasons for short stature are constitutional growth delay, genetics, and disease. ... What Are the Treatment Options for Short Stature? Treatment for short stature depends on the cause. ... their childs short stature may be perfectly healthy.. Disease. A number of diseases may cause unusually short stature. These ...
Helping you find trustworthy answers on Short Stature , Latest evidence made easy ... Find all the evidence you need on Short Stature via the Trip Database. ... 4. Short Stature Homeobox-Containing Haploinsufficiency in Seven Siblings with Short Stature (PubMed). Short Stature Homeobox- ... 1. Assessment of short stature Assessment of short stature Assessment of short stature - Differential diagnosis of symptoms , ...
... , Short Stature for Age, Delayed Linear Growth, Delayed Growth, Growth Delay. ... Short Stature, Short Stature for Age, Delayed Linear Growth, Delayed Growth, Growth Delay ... Only 5% of Short Stature referrals have an identifiable pathologic cause. *Most common identifiable causes. *Growth Hormone ... Extremely Short. *Disproportionate shortness ("Dwarf"). *Arms and legs short compared with trunk ...
Helping you find trustworthy answers on Constitutional Short Stature , Latest evidence made easy ... Find all the evidence you need on Constitutional Short Stature via the Trip Database. ... short stature (n = 34), constitutional short stature (n = 178), and short stature associated with some underlying disease (n = ... Short Stature in Childhood and Adolescence: Part 1: Medical management (Full text). Short Stature in Childhood and Adolescence ...
Short Stature Related Distress. The safety and scientific validity of this study is the responsibility of the study sponsor and ... Idiopathic Short Stature Self Image Drug: GH treatment (Genotropin) Drug: 1 year treatment with placebo followed by optional 3 ... The Influence of Growth Hormone (GH) Therapy on Short Stature Related Distress a Prospective Randomized Controlled Trial. ... short stature related distress score as measured by the Height Perception Pictures Test ...
It specifically analyses the treatment of short stature with growth hormone, along with its side effects, cost/benefit analysis ... the endocrine regulation of human growth and the clinical aspects of the diagnosis and treatment of short stature. ... Short stature is a clinical challenge in the daily practice of pediatric endocrinology, regarding the several technical, ... "Understanding Growth Hormone Secretion and Short Stature" written by Milton Rodrigo Lafuente Covarrubias, Luis Fernando de ...
... injections to treat short stature. Its the first approved ... IGF Approved for Treating Short Stature. September 21st, 2005 ... Scientists at Rush in Chicago have succeeded in trials of IGF-1 (insulin-like growth factor) injections to treat short stature ...
Idiopathic short stature (ISS) refers to extreme short stature that does not have a diagnostic explanation (idiopathic ... 2007). "Idiopathic short stature: will genetics influence the choice between GH and IGF-I therapy?". Eur. J. Endocrinol. 157 ... Short stature decrease risk of venous insufficiency. Growth hormone treatment Sizonenko PC, Rabinovitch A, Schneider P, Paunier ... Visser-van Balen H, Sinnema G, Geenen R (2006). "Growing up with idiopathic short stature: psychosocial development and hormone ...
Dietary maladvice as a cause of hypothyroidism and short stature. BMJ 1989; 298 :232 ... Dietary maladvice as a cause of hypothyroidism and short stature.. BMJ 1989; 298 doi: https://doi.org/10.1136/bmj.298.6668.232 ...
The risk is less clear for individuals who do not show catch-up growth and who are treated with GH for short stature. Recent ... Small for gestational age: short stature and beyond.. Saenger P1, Czernichow P, Hughes I, Reiter EO. ...
Short stature can be promptly recognized only with accurate measurements of growth and critical analysis of growth data. ... encoded search term (Short%20Stature) and Short Stature What to Read Next on Medscape. Related Conditions and Diseases. * ... Short stature is an inflammatory disadvantage among middle-aged Japanese men. Environ Health Prev Med. 2016 May 10. [Medline]. ... Wit JM, Oostdijk W. Novel approaches to short stature therapy. Best Pract Res Clin Endocrinol Metab. 2015 Jun. 29 (3):353-66. [ ...
... at Washington University School of Medicine have uncovered why people suffering from a childhood tumor syndrome are shorter ... There are a number of other rare genetic abnormalities that cause short stature, and this same pathway may be involved," said ... "Weve learned that the NF1 gene affects stature through a different pathway than the one weve previously focused on to ... University School of Medicine have identified the reason why people suffering from a childhood tumor syndrome are shorter than ...
An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital ...
Studies of the psychological adjustment of short children differ in their findings. Some suggest that short stature per se does ... or familial short stature (short parents and other relatives with a bone age equivalent to chronological age) whose parents ... discussing not only their own experiences of short stature but also looking for short relatives whom they have enjoyed and/or ... Because of his short stature, it is also possible that his ability to participate in different activities due to his height ...
NEW YORK (GenomeWeb) - The short stature found in a pygmy population from Indonesias Flores Island seems to stem from ... Flores Island Pygmy Genomes Provide Clues to Ancestry, Short Stature. Aug 02, 2018 ...
The causes of short stature are variable; often leading to a series of... ... Short stature in children is a diagnostic challenge to the physician. Bone age assessment can be done using various methods. ... Short stature in children is a diagnostic challenge to the physician. Bone age assessment can be done using various methods. ... Chaudhary V, Bano S. Imaging in short stature. Indian J Endocrinol Metab. 2012;16:692-7.CrossRefGoogle Scholar ...
Understanding Short Stature. What is short stature?. Short stature is a term used to describe a child who has not grown as tall ... Causes of short stature. There are many reasons why a child may be short, and they are not always cause for concern. One of the ... That means that in a group of 100 people, a child with short stature would be among the shortest three kids of the same age and ... If a child is showing significant delays in puberty and has short stature due to being a late bloomer, a short course of either ...
DevelopmentalChild with short statureDelayed pubertyFamilialTallChild's short staturePeople of short statureSyndromeAchondroplasiaGeneEtiologyKnown to cause short statureDwarfismGenesMutationsMicrocephalyNormal variant short statureAutosomalLead to short statureSkeletal dysplasiasTreatmentMalnutritionClinicalHyperkaliemia acidosisCauses Short StaturePhenotypePsychosocial developmentHeightDysplasiasCeliac DiseaseConstitutional growtDisordersAbnormalRefersAssessmentAdults
- This chapter provides a short overview of the methods of bone age estimation, and imaging findings and algorithmic approach towards a child with short stature. (springer.com)
- That means that in a group of 100 people, a child with short stature would be among the shortest three kids of the same age and gender. (childrensmercy.org)
- I am not aware of a specific syndrome of an otherwise healthy child with short stature and low dietary calcium excretion. (endotext.org)
- A child with short stature is defined as being shorter than 97.5 percent of all children the same age and gender. (medicineworld.org)
- We report a child with short stature since birth who was otherwise well, presenting at 2.8 years with progressive granulomatous skin lesions when diagnosed with severe T cell [ncbi.nlm.nih.gov] While this is usually mild and self-limited, some patients demonstrate a severe, persistent anemia resembling that seen in Diamond-Blackfan anemia (DBA). (symptoma.com)
- Depending on the type of condition causing the short stature, it is possible for two average-size parents to have a child with short stature, and is also possible for parents who are little people to have an average-size child. (kidshealth.org)
- The most common causes of short stature in childhood are constitutional growth delay or familial short stature. (wikipedia.org)
- It was concluded that Cody had constitutional delay of growth and familial short stature. (aappublications.org)
- Cody is 1 of 8 children with either constitutional short stature (a family history of delayed adolescent growth and a bone age less than chronological age) or familial short stature (short parents and other relatives with a bone age equivalent to chronological age) whose parents have asked me about GH in the past year. (aappublications.org)
- One of the most common reasons is familial short stature, which means the parents are not tall. (childrensmercy.org)
- Both constitutional delay and familial short stature are considered variants of normal. (childrensmercy.org)
- Familial short stature (one or both parents are short, but the child's rate of growth is normal). (endokidsclinic.com)
- Children with familial short stature do not have any disease-related symptoms. (lewisgale.com)
- Children with familial short stature do not require treatment. (lewisgale.com)
- Familial (genetic) short stature and constitutional short stature are common variations of normal growth. (endocrinologyadvisor.com)
- Children with familial short stature have a normal growth rate within their mid-parental target height (MPTH) range (see below), do not have bone age delay, puberty and the pubertal growth spurt occur at a normal age, and adult height is appropriate for the MPTH range. (endocrinologyadvisor.com)
- In developed countries, this typically includes adult men who are shorter than 166 centimetres (5 ft 5 in) tall and adult women who are shorter than 153 centimetres (5 ft 0 in) tall. (wikipedia.org)
- The insulin-like growth factor-I response to growth hormone is increased in prepubertal children with obesity and tall stature. (tripdatabase.com)
- Short stature is a term used to describe a child who has not grown as tall as most other boys or girls their age. (childrensmercy.org)
- It's more concerning if the parents are tall, but the child is short for their age. (childrensmercy.org)
- Tall stature is associated with lower risk for developing type 2 diabetes, with each 10 cm increase in height associated with a 41% decreased risk for diabetes among men and a 33% decreased risk among women. (healio.com)
- Adjustment for HbA1c further attenuated diabetes risk with tall stature by 10% for men, whereas adjustment for adiponectin and C-reactive protein further attenuated risk by 30% and 13%, respectively. (healio.com)
- Our findings suggest that short people might present with higher cardiometabolic risk factor levels and have higher diabetes risk compared with tall people," the authors said in a press release. (healio.com)
- Although mutations in several genes have been reported that cause pronounced short or tall stature with a drastic effect on height (10-30 cm per "mutant" allele), this normally accounts for only a very small proportion of patients with short stature. (bmj.com)
- Subjects with aneuploidy and poor microarray quality were not included, leaving a final sample size of 4,411 individuals including 415 patients with short stature, 196 patients with tall stature and 3800 patients with normal stature. (biomedcentral.com)
- The term pygmyism is used to describe the phenotype of endemic short stature (as opposed to disproportionate dwarfism occurring in isolated cases in a population) for populations in which adult men are on average less than 150 cm (4 ft 11 in) tall. (wikipedia.org)
- Growth problems, such as short and tall stature. (endokidsclinic.com)
- To figure out possible causes of your child's short stature, the provider will ask about your child's history. (medlineplus.gov)
- If your child's short stature may be due to a medical condition, your child will need lab tests and x-rays. (medlineplus.gov)
- Your child's short stature may affect their self-esteem. (medlineplus.gov)
- If there are no underlying medical reasons why either parent is short, their child's short stature may be perfectly healthy. (healthline.com)
- Only a doctor can determine whether your child's short stature has a medical cause. (healthline.com)
- An endocrinologist can help you determine if there is an underlying medical cause for your child's short stature and explain the treatment options that are available. (childrensmercy.org)
- Scientists at Washington University School of Medicine have identified the reason why people suffering from a childhood tumor syndrome are shorter than their peers. (medindia.net)
- An autosomal recessive syndrome characterized by short stature, developmental delay, intellectual disability and congenital heart defects including ventricular septal defect, atrial septal defect and patent foramen ovale. (uniprot.org)
- We aim to investigate the long-term benefits of growth hormone (GH) therapy in short stature adolescents and adults with pituitary stalk interruption syndrome (PSIS), which would be beneficial for future clinical applications. (hindawi.com)
- Deletions of Yq11 associated with short stature and the Turner syndrome. (osti.gov)
- PRINCETON, N.J., Sept. 21 -- Novo Nordisk today announced that Norditropin(R) (somatropin [rDNA origin] injection) received approval from the U.S. Food and Drug Administration (FDA) for the treatment of children with short stature associated with Turner syndrome. (fiercebiotech.com)
- Short stature is the most common feature associated with Turner syndrome affecting the majority of patients (90 - 100 percent depending on the chromosomal abnormalities). (fiercebiotech.com)
- Treatment of short stature in girls with Turner syndrome is the second new indication granted this summer for Norditropin, which recently received an approval to treat children with short stature associated with Noonan syndrome,' said Martin Soeters, president of Novo Nordisk Inc. 'Novo Nordisk is committed to our biopharmaceutical business unit, and we will continue to conduct research in rare disorders where there are currently treatment gaps. (fiercebiotech.com)
- I know first hand from my practice that short stature can be a social and self image concern for girls with Turner syndrome,' said Judith Ross, M.D., Professor, Department of Pediatrics at Thomas Jefferson University, Philadelphia. (fiercebiotech.com)
- Turner syndrome is a rare chromosomal disorder of females characterized by short stature and the lack of sexual development at puberty. (fiercebiotech.com)
- One of my height-seems rooted in nordinet ios was a genetic determinants of infancy, and short stature syndrome. (xtreamlua.com)
- Cushing s disease (CD) is the most common cause of endogenous Cushing s syndrome in children and adolescents and represents a rare cause of short stature. (endocrine-abstracts.org)
- In addition to these cardiovascular abnormalities, she had Wildervanck syndrome (Klippel-Feil syndrome, Duane syndrome and sensorineural hearing disturbance), blepharoptosis and short stature. (go.jp)
- A following retrospective genotype-phenotype analysis based on a literature review confirmed that short stature is a frequent feature in those Coffin-Siris syndrome patients with ARID1B mutations. (biomedcentral.com)
- These results suggest that haploinsufficient mutations of ARID1B are associated with syndromic short stature including Coffin-Siris syndrome and intellectual disability, while rare missense variants in ARID1B are associated with non-syndromic short stature. (biomedcentral.com)
- Digital Anomalies-Intellectual Disability-Short Stature Syndrome An important gene associated with Digital Anomalies-Intellectual Disability-Short Stature Syndrome is EBP (EBP, Cholestenol Delta-Isomerase). (malacards.org)
- Short Stature with Microcephaly and Distinctive Facies, also known as stature, short, with microcephaly and distinctive facies , is related to primary amebic meningoencephalitis and weaver syndrome . (malacards.org)
- pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality [rarediseases.info.nih.gov] One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature , and in two children the diagnosis was not confirmed. (symptoma.com)
- Turner syndrome, as used in this report, refers to a condition characterized by short stature and ovarian dysgenesis in females who have a single X chromosome and absence of all or part of the second sex chromosome (X or Y). Nonchromosomal gonadal dysgenesis is excluded. (aappublications.org)
- Pediatricians are most familiar with the clinical findings that prompt the diagnosis of Turner syndrome in children, namely, short stature and other features, such as lymphedema, webbed neck, low posterior hairline, and cubitus valgus. (aappublications.org)
- 1 - 3 Later in childhood, Turner syndrome may be suspected primarily because of short stature. (aappublications.org)
- Disease-specific growth charts should be used, when available, for syndromic short stature to compare growth with data from other children with the same disorder [e.g., trisomy 21 (Down syndrome), Turner syndrome, achondroplasia, etc. (endocrinologyadvisor.com)
- Short-limb short stature in which there is limb shortening as achondroplasia, hypochondroplasia, pseudoachondroplasia and multiple epiphyseal dysplasia. (wikipedia.org)
- Bone and skeletal diseases, such as rickets or achondroplasia, may change stature through their effects on bone growth. (healthline.com)
- Disproportionate short stature can be further subdivided as specified by the body segments affected by shortening, namely limbs versus trunk: Short-limb short stature in which there is limb shortening as achondroplasia, hypochondroplasia, pseudoachondroplasia and multiple epiphyseal dysplasia. (wikipedia.org)
- By far, the most common skeletal dysplasia is achondroplasia, a short-limb dwarfism that happens in about 1 of every 15,000 to 40,000 babies born of all races and ethnicities. (kidshealth.org)
- Heterozygous mutations in ACAN, the gene encoding aggrecan, cause autosomal dominant short stature , accelerated skeletal maturation, and joint disease. (tripdatabase.com)
- We've learned that the NF1 gene affects stature through a different pathway than the one we've previously focused on to understand cancers in patients with neurofibromatosis type 1," said Washington University neurologist David H. Gutmann, M.D., Ph.D., a Washington University neurologist who treats individuals with neurofibromatosis at St. Louis Children's Hospital. (medindia.net)
- NEW YORK (GenomeWeb) - The short stature found in a pygmy population from Indonesia's Flores Island seems to stem from selection affecting the fatty acid desaturase (FADS) gene cluster and height-related variants shared with other human populations rather than from archaic introgression from Homo floresiensis , a diminutive archaic hominin that once lived on the same island, according to a new study. (genomeweb.com)
- Individuals with short stature or with a skeletal dysplasia known or suspected to be caused by a gene mutation (change) may be eligible for this study. (clinicaltrials.gov)
- A specific gene is particularly frequently involved in the development of short stature. (medicalxpress.com)
- Background: The short stature homeobox-containing gene, SHOX, located on the distal ends of the X and Y chromosomes, encodes a homeodomain transcription factor responsible for a significant proportion of long-bone growth. (rti.org)
- Mutations and deletions of the homeobox transcription factor gene SHOX are known to cause short stature. (bmj.com)
- As far as we know, this truncating mutation in the C-propeptide region is the farthest one from the 3' end of the gene that causes a disease with short stature, suggesting the existence of the mutant protein. (springer.com)
- This study aims to evaluate the association between mutations in ARID1B gene and short stature, both the syndromic and non-syndromic form. (biomedcentral.com)
- We propose that the ARID1B gene, which is the only gene intercepted by three CNVs, is a novel short stature gene. (biomedcentral.com)
- The objective of the study was to investigate the clinical features of heterozygous carriers of a novel mutation in the IGF1 gene in comparison with noncarriers in a short family and to establish the effect of human GH treatment. (metabolomicscentre.nl)
- Inv(X)(p21.1;q22.1) in a man with mental retardation, short stature, general muscle wasting, and facial dysmorphism: clinical study and mutation analysis of the NXF5 gene. (ru.nl)
- An important gene associated with Short Stature with Microcephaly and Distinctive Facies is CRIPT (CXXC Repeat Containing Interactor Of PDZ3 Domain). (malacards.org)
- Medication administered depends on the etiology of the short stature. (medscape.com)
- If the clinical assessment is suggestive of a particular etiology for short stature, one should proceed towards doing tests to confirm the diagnosis. (pediatriconcall.com)
- Objective: We aimed to investigate the etiology of short stature in the family by using laboratory and genetic tests (Sanger and whole-exome sequencing). (eurospe.org)
- The Quebec's Association of Persons of Short Stature regroups people who have dwarfism and/or their parents, as well as everyone interested to support the cause. (kumc.edu)
- Fazil Q. Dwarfism: Medical and psychosocial aspects of profound short stature. (medscape.com)
- 76 Short stature with microcephaly and distinctive facies: A disease characterized by dwarfism, microcephaly, and distinctive facial dysmorphism involving frontal bossing, high forehead, sparse hair and eyebrows, telecanthus, mild proptosis, anteverted nares, and flat nasal bridge. (malacards.org)
- They're divided into two types: short-trunk and short-limb dwarfism. (kidshealth.org)
- People with short-trunk dwarfism have a shortened trunk with more average-sized limbs, whereas those with short-limb dwarfism have an average-sized trunk but shortened arms and legs. (kidshealth.org)
- Diastrophic dysplasia is a different form of short-limb dwarfism. (kidshealth.org)
- In general, dwarfism caused by skeletal dysplasias results in what is known as disproportionate short stature - meaning the limbs and the trunk are not of the same proportion as those of typically-statured people. (kidshealth.org)
- This study will determine the genes responsible for skeletal dysplasias (disorders of the skeleton) and short stature and define the range and type of medical problems they cause over time. (clinicaltrials.gov)
- Is short stature associated with a 'shortage' of genes? (medicalxpress.com)
- One of the things we were excited about is you could study (height) in many people, and once you've done that you have a short list of genes that you can then study for what they do in terms of osteoarthritis. (bio-medicine.org)
- While individual statures may be more highly influenced by genes, the mean statures of populations or homogeneous geographical groups is more controlled by common levels of nutrition, stress, and environment of the individuals within that group. (oregonstate.edu)
- The authors have analysed SHOX enhancer regions in a large cohort of short stature patients to study the importance of regulatory regions in developmentally relevant genes like SHOX . (bmj.com)
- Recently, a significant association between rare copy number variations (CNVs) and short stature has been identified, and candidate genes in these rare CNVs are being explored. (biomedcentral.com)
- This study supports the notion that mutations in genes related to syndromic short stature may exert milder effect and contribute to short stature in the general population. (biomedcentral.com)
- Rare variants with larger effects have been found in a number of genes leading to syndromic short stature disorders. (biomedcentral.com)
- We further demonstrated that an increased burden of rare deletions may also contribute to short stature in a non-clinically ascertained population, underscoring the concept that milder defects in genes known to cause syndromic short stature may contribute to short stature in the general population. (biomedcentral.com)
- Other evidence points towards unusually low levels of expression of the genes encoding the growth hormone receptor and growth hormone compared to the related tribal groups, associated with low serum levels of insulin-like growth factor-1 and short stature. (wikipedia.org)
- Aggrecan Mutations in Nonfamilial Short Stature and Short Stature Without Accelerated Skeletal Maturation Aggrecan, a proteoglycan, is an important component of cartilage extracellular matrix, including that of the growth plate. (tripdatabase.com)
- In conclusion, patients with ACAN mutations may present with nonfamilial short stature and with bone age less than chronological age. (diva-portal.org)
- These findings expand the known phenotypic spectrum of heterozygous ACAN mutations and indicate that this diagnosis should be considered in children without a family history of short stature and in children without accelerated skeletal maturation. (diva-portal.org)
- Of all the reported truncating mutations in the C-propeptide region that result in short-stature type II collagenopathies, this mutation is the farthest from the C-terminal of COL2A1 . (springer.com)
- Mutation screening of ARID1B coding regions was further conducted in a cohort of 48 non-syndromic short stature patients,andfour novel missense variants including two de novo mutations were found. (biomedcentral.com)
- We provide additional evidence supporting that ARID1B mutations are associated with both syndromic and non-syndromic short stature. (biomedcentral.com)
- Definition A disease characterized by short stature and microcephaly apparent at birth, progressive postnatal growth failure, and endocrine dysfunction. (symptoma.com)
- 58 Short stature with microcephaly and distinctive facies is characterized by pre- or postnatal growth retardation, frontal bossing, high forehead, sparse hair and eyebrows, and telecanthus. (malacards.org)
- Mental retardation - short stature - microcephaly - eye anomalies refers to a form of intellectual disability that is characterized mainly by below-average mental ability, short body frame, a small head, and eye problems. (resourcerepository.org)
- Currently, only 1 of the 10 largest reported clinical studies has demonstrated that therapy can increase final adult height in patients with normal variant short stature. (medscape.com)
- Investigators demonstrated average gain in height did not exceed 4 cm when rhGH treatment of normal variant short stature began prior to puberty and continued through completion of puberty. (medscape.com)
- Is he a normal variant short stature? (pediatriconcall.com)
- This autosomal dominant condition is characterized by short stature , obesity, shortening of the metacarpals and metatarsals, and variable mental retardation and may also include end-organ resistance to multiple hormones. (tripdatabase.com)
- Family history was consistent with an autosomal dominant inheritance of short stature, with several affected members also showing early-onset osteoarthritis. (diva-portal.org)
- An autosomal recessive disorder characterized by short stature, defective GROWTH HORMONE RECEPTOR, and failure to generate INSULIN-LIKE GROWTH FACTOR I by GROWTH HORMONE. (bioportfolio.com)
- Malnutrition can also lead to short stature. (healthline.com)
- Chromosomal abnormalities, pituitary gland disorders (which influence growth and metabolism), absorptive problems (when the body can't absorb nutrients adequately), and kidney disease can all lead to short stature if a child fails to grow at a normal rate. (kidshealth.org)
- The decision to treat is based on a belief that the child will be disabled by being extremely short as an adult, so that the risks of treatment (including sudden death ) will outweigh the risks of not treating the symptom of short stature. (wikipedia.org)
- Treatment of short stature depends on the underlying cause. (hopkinsmedicine.org)
- What Are the Treatment Options for Short Stature? (healthline.com)
- This study supports the more frequent use of active medical treatment to advance growth in boys with CDGP, and shows that although boys with CDGP reach their predicted heights, this is short for their families. (tripdatabase.com)
- Thus, treatment takes a child who is expected to be much shorter than a typical adult and produces an adult who is still obviously shorter than average. (wikipedia.org)
- This week, a growth hormone product -- injectable somatropin (Norditropin [rDNA origin]) -- received FDA approval for treatment of short stature in children born small for their gestational age without catch-up growth by age two to four years. (medpagetoday.com)
- Ipsen (Paris:IPN), today announced preliminary results from a Phase II open-label clinical trial (MS316 study) that evaluates the co-administration of recombinant human growth hormone (rhGH) and recombinant human insulin-like growth factor-1 (rhIGF-1) in two separate daily injections as a potential treatment for children with otherwise unexplained short stature associated with low IGF-1 levels. (drugs.com)
- The MS316 study is an ongoing Phase II, randomized, open-label, active-treatment controlled trial evaluating the efficacy and safety of the co-administration of rhGH and rhIGF-1 therapy versus rhGH alone in 106 children with short stature associated with low levels of IGF-1. (drugs.com)
- The preliminary results for the MS316 study of a co-administration treatment of recombinant IGF-1 and recombinant growth hormone in children with short stature associated with low IGF-1 are encouraging, " said L. Kurt Midyett , MD, Medical Director, Children's Mercy Hospital and Clinics, Kansas City, Missouri. (drugs.com)
- For decades, the only available drug treatment for short stature has been shots of growth hormone. (medicineworld.org)
- Growth Hormone Treatment for Short Stature in the USA, Germany and France: 15 Years of Surveillance in the Genetics and Neuroendocrinology of Short-Stature International Study (GeNeSIS). (bioportfolio.com)
- Psychosocial consequences of hormone treatment To enhance height in children with short stature, growth hormone (GH) can be used. (uu.nl)
- In short children without a detectable pathology underlying their short stature, there is no medical rationale for growth hormone treatment. (uu.nl)
- in short but otherwise healthy children, it is to be shown that being short is associated with psychosocial problems and that hormone treatment improves psychosocial functioning. (uu.nl)
- This thesis examines psychosocial consequences of hormone treatment in short but healthy children. (uu.nl)
- The psychosocial consequences of combined GH and GnRHa treatment in 38 adolescents with ISS or persistent short stature born small for gestational age (SGA) was prospectively examined in a randomized controlled trial. (uu.nl)
- It can be concluded that, in the long term and independent of hormone treatment, adequate psychosocial adjustment is expected in case of short stature. (uu.nl)
- The results of this thesis plead against hormone treatment in short normal adolescents. (uu.nl)
- These observations suggest that a dose of growth hormone comparable to that used for the treatment of hypopituitarism increases growth rate in some short normal children. (elsevier.com)
- Grumbach, M. M. / Growth hormone treatment for short stature . (elsevier.com)
- For others, treatment will focus on the cause of short stature. (lewisgale.com)
- Treatment with Omnitrope for short stature should be discontinued when the epiphyses are fused. (drugs.com)
- Chronic illnesses, malnutrition, endocrine, metabolic disorders or chromosomal anomalies are characterized by proportionate short stature. (wikipedia.org)
- Based on guidelines set by the American Association of Clinical Endocrinologists, doctors consider a child to be of short stature if their height falls within the lowest two percentiles of their peer group. (healthline.com)
- Furth SL, Stablein D, Fine RN, Powe NR, Fivush BA (2002) Adverse clinical outcomes associated with short stature at dialysis initiation: a report of the North American Pediatric Renal Transplant Cooperative Study. (springer.com)
- Finding the right clinical trial for Short stature hyperkaliemia acidosis can be challenging. (diseaseinfosearch.org)
- Following organizations serve the condition "Short stature hyperkaliemia acidosis" for support, advocacy or research. (diseaseinfosearch.org)
- The terms "Short stature hyperkaliemia acidosis" returned 0 free, full-text research articles on human participants. (diseaseinfosearch.org)
- According to ClinicalTrials.gov there are currently 0 additional "open" studies for "Short stature hyperkaliemia acidosis" (open studies are recruiting volunteers) and 0 "Short stature hyperkaliemia acidosis" studies with "all" status. (diseaseinfosearch.org)
- Short stature refers to a height of a human being which is below typical. (wikipedia.org)
- In a medical context, short stature is typically defined as an adult height that is more than two standard deviations below the mean for age and gender, which corresponds to the shortest 2.3% of individuals. (wikipedia.org)
- However, in some cases, people who are naturally shorter combined with their advanced bone age, end up being even shorter than the height they normally would have been because of their stunted growth. (wikipedia.org)
- Although short children commonly report being teased about their height, most adults who are very short are not physically or psychologically disabled by their height. (wikipedia.org)
- Short stature is a general term used to describe a condition in which a child or a teen's height is well below the average height of his or her peers. (hopkinsmedicine.org)
- Short stature typically means that a person's height is below that of the shortest 3 percent to 5 percent of children of the same age and sex. (hopkinsmedicine.org)
- Short stature is a general term for people whose height is considerably below average compared to the height of their peers. (healthline.com)
- BMJ Best Practice You'll need a subscription to access all of BMJ Best Practice Search Assessment of short stature Last reviewed: February 2019 Last updated: October 2018 Summary Short stature is defined as a height that is two or more standard deviations below the mean for age and gender within a population (below the 2.5th percentile). (tripdatabase.com)
- From family 1, a 6-year-old boy presented with short stature [height standard deviation score (SDS), -1.and bone age advanced by 3 years. (tripdatabase.com)
- From family 2, a 12-year-old boy was evaluated for short stature (height SDS, -3.9). (tripdatabase.com)
- To determine the natural history and psychological impact of the growth pattern in boys with constitutional delay in growth and puberty (CDGP), 43 boys presenting with short stature due to CDGP were followed up to final height. (tripdatabase.com)
- They proposed a definition of a height more than 2.25 standard deviations below mean, roughly equal to the shortest 1.2% of the population. (wikipedia.org)
- However, children born into short families, defined by a mean parental height at least two standard deviations below normal in Sweden, had significantly less growth response to hormone therapy. (medpagetoday.com)
- OBJECTIVE -To investigate the association between stature-related measurements (height, leg length, and leg length-to-height ratio) and adiposity, insulin resistance, and glucose intolerance. (diabetesjournals.org)
- RESULTS -Shorter height and leg length, and lower leg length-to-height ratio, were associated with higher percent body fat, especially in women. (diabetesjournals.org)
- We, therefore, analyzed data from the Third National Health and Nutrition Examination Survey (NHANES III) ( 23 ) to test the hypothesis that shorter height and leg length, and lower leg length-to-height ratio, are independently associated with greater likelihood of adiposity, insulin resistance, and glucose intolerance in the general U.S. adult population. (diabetesjournals.org)
- Accurate measurement of height is essential to know whether the child is short. (pediatriconcall.com)
- The final height of such a child will be short. (pediatriconcall.com)
- Height for short stature by short stature is height and. (xtreamlua.com)
- I've met women to a height for those is a dating someone shorter guy was a free online dating is 8 shorter than me. (xtreamlua.com)
- The study found that children whose families used coal as a primary fuel source had an average height at 3 years of age that was a statistically significant 1.3 centimeters, or approximately one-half inch, shorter than children reared in households that used other fuels, like electricity or gas central heating. (healthcanal.com)
- Children with a standard deviation score (SDS) for body mass index or height below -2 were considered underweight and short respectively. (diva-portal.org)
- Regression models showed that slow weight gain before 19 weeks of age was the strongest predictor for lasting underweight, while slow height gain before 19 weeks of age and male sex were associated with short stature. (diva-portal.org)
- What I do know is that a person with short stature will have less options in life available to them than somebody of average height. (mumsnet.com)
- Short stature is typically defined as a height more than 2 standard deviations (SD) below the corresponding mean height for a given age, gender and ethnic population. (biomedcentral.com)
- I was wondering whether comparatively large feet, coupled with small muscle build and short height, could have been desirable amongst early humans? (thescienceforum.com)
- Current desirable traits in males include large stature 'having a stronger male provides better protection' as well as an imposing height. (thescienceforum.com)
- Mean T-scores were significantly lower among both adults and adolescents with short stature compared with those of normal height. (who.int)
- A child who is 2 standard deviations (SD) or more below the mean height for children of that sex and chronological age (and ideally of the same racial-ethnic group) is said to have short stature. (cancertherapyadvisor.com)
- Twenty-five of them were short (height ≤150 cm), and 23 were not short, to serve as a control (height >159 cm). (ovid.com)
- Women of short stature presented an increase in waist-to-height ratio, with a simultaneous decrease in total plasma T3. (ovid.com)
- The mean of birth weights of babies born to mothers of normal height is more than the mean of birth weights of babies born to mothers of short stature by 277.01 gm. (oalib.com)
- This study reaffirms the observation that maternal height has a direct effect on the weight of the newborn and we propose that maternal short stature be identified as an independent risk factor for low birth weight. (oalib.com)
- stature Decreased body height Small stature [ more ] 0004322 Vertebral compression fractures Compression fracture 0002953 Showing of 40 Last updated: 11/1/2018 The resources [rarediseases.info.nih.gov] anemia in a Kashmiri boy. (symptoma.com)
- In anthropology , pygmy peoples are ethnic groups whose average height is unusually short. (wikipedia.org)
- The term short stature refers to any child who has a height well below the average for age and sex. (endokidsclinic.com)
- A boy with a height that is plotted on the 25th percentile line, for example, indicates that approximately 25 out of 100 boys his age are shorter than him. (endokidsclinic.com)
- A child that has a height plot that is below the 3% line is considered to have short stature compared with the general population. (endokidsclinic.com)
- Constitutional delay in growth and puberty (the child is short during most of childhood but will have late puberty and end up in the normal height range as an adult). (endokidsclinic.com)
- Short stature is a height that is less than or equal to the third percentile for a person's age, sex, and race. (lewisgale.com)
- The term 'prevalence' of Thrombocytopenia -- cerebellar hypoplasia -- short stature usually refers to the estimated population of people who are managing Thrombocytopenia -- cerebellar hypoplasia -- short stature at any given time. (rightdiagnosis.com)
- The term 'incidence' of Thrombocytopenia -- cerebellar hypoplasia -- short stature refers to the annual diagnosis rate, or the number of new cases of Thrombocytopenia -- cerebellar hypoplasia -- short stature diagnosed each year. (rightdiagnosis.com)
- Sandberg DE, Colsman M. Assessment of Psychosocial aspects of short stature. (medscape.com)
- The assessment of thyroid function in children with short stature provides the evidence that measurement of IGF-I concentration may be a procedure reliable at least to the some degree in diagnosing GHD as the results of GHST. (springer.com)
- In an analysis of more than 2,600 German adults, researchers also found that short stature was associated with higher risk for developing incident type 2 diabetes during follow-up, noting that the increased risk among shorter individuals may be due to higher liver fat content and a less favorable profile of cardiometabolic risk factors. (healio.com)
- Stunted adolescents suffered from low bone mass density and low stature adults suffered a high prevalence of osteoporosis. (who.int)
- I have 3 children (who are now adults) one of which is short statured, so have been a member of SSS for many years. (shortstaturescotland.co.uk)