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.
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001)
Abnormal development of cartilage and bone.
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.)
A fibroblast growth factor receptor that regulates CHONDROCYTE growth and CELL DIFFERENTIATION. Mutations in the gene for fibroblast growth factor receptor 3 have been associated with ACHONDROPLASIA; THANATOPHORIC DYSPLASIA and NEOPLASTIC CELL TRANSFORMATION.
Developmental bone diseases are a category of skeletal disorders that arise from disturbances in the normal growth and development of bones, including abnormalities in size, shape, structure, or composition, which can lead to various musculoskeletal impairments and deformities.
A severe form of neonatal dwarfism with very short limbs. All cases have died at birth or later in the neonatal period.
The area between the EPIPHYSIS and the DIAPHYSIS within which bone growth occurs.
A dehydrated extract of thyroid glands from domesticated animals. After the removal of fat and connective tissue, the extract is dried or lyophilized to yield a yellowish to buff-colored amorphous powder containing 0.17-0.23% of iodine.
Abnormally small jaw.
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.
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.
A cyclic GMP-dependent protein kinase subtype that is expressed predominantly in INTESTINES, BRAIN, and KIDNEY. The protein is myristoylated on its N-terminus which may play a role its membrane localization.
The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age.
Plant steroids ubiquitously distributed throughout the plant kingdom. They play essential roles in modulating growth and differentiation of cells at nanomolar to micromolar concentrations.
Steroidal compounds in which one or more carbon atoms in the steroid ring system have been substituted with non-carbon atoms.
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.
Polymorphic cells that form cartilage.
'Abnormalities, Multiple' is a broad term referring to the presence of two or more structural or functional anomalies in an individual, which may be genetic or environmental in origin, and can affect various systems and organs of the body.
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)
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.
The physical measurements of a body.
Cholestanes substituted in any position with one or more hydroxy groups. They are found in feces and bile. In contrast to bile acids and salts, they are not reabsorbed.
A class of plant growth hormone isolated from cultures of Gibberella fujikuroi, a fungus causing Bakanae disease in rice. There are many different members of the family as well as mixtures of multiple members; all are diterpenoid acids based on the gibberellane skeleton.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.
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.
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.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
The five long bones of the METATARSUS, articulating with the TARSAL BONES proximally and the PHALANGES OF TOES distally.
Disorders involving either the ADENOHYPOPHYSIS or the NEUROHYPOPHYSIS. These diseases usually manifest as hypersecretion or hyposecretion of PITUITARY HORMONES. Neoplastic pituitary masses can also cause compression of the OPTIC CHIASM and other adjacent structures.
Mice bearing mutant genes which are phenotypically expressed in the animals.
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.

Decreased hexosamine biosynthesis in GH-deficient dwarf rat muscle. reversal with GH, but not IGF-I, therapy. (1/457)

Enhanced glucose flux via the hexosamine biosynthesis pathway (HNSP) has been implicated in insulin resistance. We measured L-glutamine:D-fructose-6-phosphate amidotransferase activity (GFAT, a rate-limiting enzyme) and concentrations of UDP-N-acetyl hexosamines (UDP-HexNAc, major products of HNSP) in muscle and liver of growth hormone (GH)-deficient male dwarf (dw) rats. All parameters measured, except body weight, were similar in 5-wk-old control and dw rats. Muscle GFAT activity declined progressively with age in controls and dw rats but was consistently 30-60% lower in 8- to 14-wk-old dw rats vs. age-matched controls; UDP-HexNAc concentrations in muscle were concomitantly 30% lower in dw rats vs. controls (P < 0.01). Concentrations of UDP-hexoses, GDP-mannose, and UDP in muscle were similar in control and dw rats. Muscle HNSP activity was similarly diminished in fed and fasted dw rats. In liver, only a small difference in GFAT activity was evident between controls and dw rats, and no differences in UDP-HexNAc concentrations were observed. Treatment with recombinant human GH (rhGH) for 5 days restored UDP-HexNAc to control levels in dw muscles (P < 0.01) and partially restored GFAT activity. Insulin-like growth factor I treatment was ineffective. We conclude that GH participates in HNSP regulation in muscle.  (+info)

High-resolution physical and genetic mapping of the critical region for Meckel syndrome and Mulibrey Nanism on chromosome 17q22-q23. (2/457)

Previously, we assigned the genes for two autosomal recessive disorders, Meckel syndrome (MKS; MIM 249000) and Mulibrey Nanism [MUL (muscle-liver-brain-eye Nanism); MIM 253250] that are enriched in the Finnish population, to overlapping genomic regions on chromosome 17q. Now, we report the construction of a bacterial clone contig over the critical region for both disorders. Several novel CA-repeat markers were isolated from these clones, which allowed refined mapping of the MKS and MUL loci using haplotype and linkage disequilibrium analysis. The localization of the MKS locus was narrowed to <1 cM between markers D17S1290 and 132-CA, within an approximately 800-kb region. The MUL locus was refined into an approximately 1400-kb interval between markers D17S1290 and 52-CA. The whole MKS region falls within the MUL region. In the common critical region, the conserved haplotypes were different in MKS and MUL patients. A trancript map was constructed by assigning expressed sequence tags (ESTs) and genes, derived from the human gene map, to the bacterial clone contig. Altogether, four genes and a total of 20 ESTs were precisely localized. These data provide the molecular tools for the final identification of the MKS and the MUL genes.  (+info)

The bcl-2 knockout mouse exhibits marked changes in osteoblast phenotype and collagen deposition in bone as well as a mild growth plate phenotype. (3/457)

Histological examination of long bones from 1-day-old bcl-2 knockout and age-matched control mice revealed no obvious differences in length of bone, growth plate architecture or stage of endochondral ossification. In 35-day-old bcl-2 knockout mice that are growth retarded or 'dwarfed'. the proliferative zone of the growth plate appeared slightly thinner and the secondary centres of ossification less well developed than their age-matched wild-type controls. The most marked histological effects of bcl-2 ablation were on osteoblasts and bone. 35-day-old knockout mouse bones exhibited far greater numbers of osteoblasts than controls and the osteoblasts had a cuboidal phenotype in comparison with the normal flattened cell appearance. In addition, the collagen deposited by the osteoblasts in the bcl-2 knockout mouse bone was disorganized in comparison with control tissue and had a pseudo-woven appearance. The results suggest an important role for Bcl-2 in controlling osteoblast phenotype and bone deposition in vivo.  (+info)

47,XX,UPD(7)mat,+r(7)pat/46,XX,UPD(7)mat mosaicism in a girl with Silver-Russell syndrome (SRS): possible exclusion of the putative SRS gene from a 7p13-q11 region. (4/457)

Maternal uniparental disomy for chromosome 7 (UPD7) may present with a characteristic phenotype reminiscent of Silver-Russell syndrome (SRS). Previous studies have suggested that approximately 10% of SRS patients have maternal UPD7. We describe a girl with a mos47,XX,+mar/46,XX karyotype associated with the features of SRS. Chromosome painting using a chromosome 7 specific probe pool showed that the small marker was a ring chromosome 7 (r(7)). PCR based microsatellite marker analysis of the patient detected only one maternal allele at each of 16 telomeric loci examined on chromosome 7, but showed both paternal and maternal alleles at four centromeric loci. Considering her mosaic karyotype composed ofdiploid cells and cells with partial trisomy for 7p13-q11, the allele types obtained at the telomeric loci may reflect the transmission of one maternal allele in duplicate, that is, maternal UPD7 (complete isodisomy or homodisomy 7), whereas those at the centromeric loci were consistent with biparental contribution to the trisomic region. It is most likely that the patient originated in a 46,XX,r(7) zygote, followed by duplication of the maternally derived whole chromosome 7 in an early mitosis, and subsequent loss of the paternally derived ring chromosome 7 in a subset of somatic cells. The cell with 46,XX,r(7) did not survive thereafter because of the monosomy for most of chromosome 7. If the putative SRS gene is imprinted, it can be ruled out from the 7p11-q11 region, because biparental alleles contribute to the region in our patient.  (+info)

Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. (5/457)

A sibship is described where the brother and a sister both have Kallmann's syndrome (anosmia and deficiency of gonadotrophin releasing hormone) and the woman also has streak ovaries. Although there are several conditions that may occur with Kallmann's syndrome, there are no known reports of ovarian dysgenesis being associated with this disorder. Cytogenetic analysis showed no rearrangement or major deletions of the chromosomes. Linkage analysis using informative microsatellite markers predicts that a gene other than KAL1 (at Xp22.3) is implicated in the Kallmann's syndrome manifesting concurrently with ovarian dysgenesis found in this family.  (+info)

A missense mutation in the GHR gene of Cornell sex-linked dwarf chickens does not abolish serum GH binding. (6/457)

Sex-linked dwarfism (SLD) in chickens is characterized by impaired growth despite normal or supranormal plasma growth hormone (GH) levels. This resistance to GH action is thought to be due to mutations of the GH receptor (GHR) gene that reduce or prevent GH binding to target sites. The genetic lesion causing GH resistance in Cornell SLD chickens is, however, not known. Previous studies have shown that hepatic GH-binding activity is abnormally low in these birds, yet the GHR gene is transcribed into a transcript of appropriate size and abundance. Point mutations or defects in translation could therefore account for the impaired GHR activity in this strain. These possibilities were addressed in the present study. A missense mutation resulting in the substitution of serine for the conserved phenylalanine was identified in the region of the GHR cDNA encoding the extracellular domain. Translation of this mutant transcript was indicated by the presence of GHR/GH-binding protein (GHBP)-immunoreactive proteins in liver (55, 70 and 100 kDa) and serum (70 kDa) of normal (K) and SLD birds. Radiolabelled GH did not, however, bind to the hepatic membranes of most SLD chickens. Serum GH-binding activity, in contrast, was readily detectable, although at significantly lower levels than in normal birds. The missense mutation in the SLD GHR gene may thus affect targeting of GHRs to hepatic plasma membranes.  (+info)

Increased anxiety and impaired pain response in puromycin-sensitive aminopeptidase gene-deficient mice obtained by a mouse gene-trap method. (7/457)

A mouse mutation, termed goku, was generated by a gene-trap strategy. goku homozygous mice showed dwarfism, a marked increase in anxiety, and an analgesic effect. Molecular analysis indicated that the mutated gene encodes a puromycin-sensitive aminopeptidase (Psa; EC 3. 4.11.14), whose functions in vivo are unknown. Transcriptional arrest of the Psa gene and a drastic decrease of aminopeptidase activity indicated that the function of Psa is disrupted in homozygous mice. Together with the finding that the Psa gene is strongly expressed in the brain, especially in the striatum and hippocampus, these results suggest that the Psa gene is required for normal growth and the behavior associated with anxiety and pain.  (+info)

A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? (8/457)

To investigate whether the expansion of CAG repeats of the TATA-binding protein (TBP) gene is involved in the pathogenesis of neurodegenerative diseases, we have screened 118 patients with various forms of neurological disease and identified a sporadic-onset patient with unique neurologic symptoms consisting of ataxia and intellectual deterioration associated with de novo expansion of the CAG repeat of the TBP gene. The mutant TBP with an expanded polyglutamine stretch (63 glutamines) was demonstrated to be expressed in lymphoblastoid cell lines at a level comparable with that of wild-type TBP. The CAG repeat of the TBP gene consists of impure CAG repeat and the de novo expansion involves partial duplication of the CAG repeat. The present study provides new insights into sporadic-onset trinucleotide repeat diseases that involve de novo CAG repeat expansion.  (+info)

Dwarfism is a medical condition that is characterized by short stature, typically with an adult height of 4 feet 10 inches (147 centimeters) or less. It is caused by a variety of genetic and medical conditions that affect bone growth, including skeletal dysplasias, hormonal deficiencies, and chromosomal abnormalities.

Skeletal dysplasias are the most common cause of dwarfism and are characterized by abnormalities in the development and growth of bones and cartilage. Achondroplasia is the most common form of skeletal dysplasia, accounting for about 70% of all cases of dwarfism. It is caused by a mutation in the fibroblast growth factor receptor 3 (FGFR3) gene and results in short limbs, a large head, and a prominent forehead.

Hormonal deficiencies, such as growth hormone deficiency or hypothyroidism, can also cause dwarfism if they are not diagnosed and treated early. Chromosomal abnormalities, such as Turner syndrome (monosomy X) or Down syndrome (trisomy 21), can also result in short stature and other features of dwarfism.

It is important to note that people with dwarfism are not "dwarves" - the term "dwarf" is a medical and sociological term used to describe individuals with this condition, while "dwarves" is a term often used in fantasy literature and media to refer to mythical beings. The use of the term "dwarf" can be considered disrespectful or offensive to some people with dwarfism, so it is important to use respectful language when referring to individuals with this condition.

Achondroplasia is a genetic disorder that affects bone growth, leading to dwarfism. It is the most common form of short-limbed dwarfism and is caused by a mutation in the FGFR3 gene. This mutation results in impaired endochondral ossification, which is the process by which cartilage is converted into bone.

People with achondroplasia have a characteristic appearance, including:

* Short stature (typically less than 4 feet, 4 inches tall)
* Disproportionately short arms and legs
* Large head with a prominent forehead and flat nasal bridge
* Short fingers with a gap between the middle and ring fingers (known as a trident hand)
* Bowing of the lower legs
* A swayed back (lordosis)

Achondroplasia is usually inherited in an autosomal dominant manner, which means that a child has a 50% chance of inheriting the disorder if one parent has it. However, about 80% of cases result from new mutations in the FGFR3 gene and occur in people with no family history of the condition.

While achondroplasia can cause various medical issues, such as breathing difficulties, ear infections, and spinal cord compression, most individuals with this condition have normal intelligence and a typical lifespan. Treatment typically focuses on managing specific symptoms and addressing any related complications.

Osteochondrodysplasias are a group of genetic disorders that affect the development of bones and cartilage. These conditions can result in dwarfism or short stature, as well as other skeletal abnormalities. Osteochondrodysplasias can be caused by mutations in genes that regulate bone and cartilage growth, and they are often characterized by abnormalities in the shape, size, and/or structure of the bones and cartilage.

There are many different types of osteochondrodysplasias, each with its own specific symptoms and patterns of inheritance. Some common examples include achondroplasia, thanatophoric dysplasia, and spondyloepiphyseal dysplasia. These conditions can vary in severity, and some may be associated with other health problems, such as respiratory difficulties or neurological issues.

Treatment for osteochondrodysplasias typically focuses on managing the symptoms and addressing any related health concerns. This may involve physical therapy, bracing or surgery to correct skeletal abnormalities, and treatment for any associated medical conditions. In some cases, genetic counseling may also be recommended for individuals with osteochondrodysplasias and their families.

Microcephaly is a medical condition where an individual has a smaller than average head size. The circumference of the head is significantly below the normal range for age and sex. This condition is typically caused by abnormal brain development, which can be due to genetic factors or environmental influences such as infections or exposure to harmful substances during pregnancy.

Microcephaly can be present at birth (congenital) or develop in the first few years of life. People with microcephaly often have intellectual disabilities, delayed development, and other neurological problems. However, the severity of these issues can vary widely, ranging from mild to severe. It is important to note that not all individuals with microcephaly will experience significant impairments or challenges.

Fibroblast Growth Factor Receptor 3 (FGFR3) is a type of cell surface receptor that binds to fibroblast growth factors (FGFs), which are signaling proteins involved in various biological processes such as cell division, growth, and wound healing.

FGFR3 is a transmembrane protein with an extracellular domain that contains the binding site for FGFs, a transmembrane domain, and an intracellular tyrosine kinase domain that activates downstream signaling pathways upon FGF binding.

Mutations in the FGFR3 gene have been associated with several human genetic disorders, including thanatophoric dysplasia, achondroplasia, and hypochondroplasia, which are characterized by abnormal bone growth and development. In these conditions, gain-of-function mutations in FGFR3 lead to increased receptor activity and activation of downstream signaling pathways, resulting in impaired endochondral ossification and short-limbed dwarfism.

In addition to its role in bone growth and development, FGFR3 has been implicated in the regulation of cell proliferation, differentiation, and survival in various tissues, including the brain, lung, and kidney. Dysregulation of FGFR3 signaling has also been associated with cancer, including bladder, breast, and cervical cancers.

Developmental bone diseases are a group of medical conditions that affect the growth and development of bones. These diseases are present at birth or develop during childhood and adolescence, when bones are growing rapidly. They can result from genetic mutations, hormonal imbalances, or environmental factors such as poor nutrition.

Some examples of developmental bone diseases include:

1. Osteogenesis imperfecta (OI): Also known as brittle bone disease, OI is a genetic disorder that affects the body's production of collagen, a protein necessary for healthy bones. People with OI have fragile bones that break easily and may also experience other symptoms such as blue sclerae (whites of the eyes), hearing loss, and joint laxity.
2. Achondroplasia: This is the most common form of dwarfism, caused by a genetic mutation that affects bone growth. People with achondroplasia have short limbs and a large head relative to their body size.
3. Rickets: A condition caused by vitamin D deficiency or an inability to absorb or use vitamin D properly. This leads to weak, soft bones that can bow or bend easily, particularly in children.
4. Fibrous dysplasia: A rare bone disorder where normal bone is replaced with fibrous tissue, leading to weakened bones and deformities.
5. Scoliosis: An abnormal curvature of the spine that can develop during childhood or adolescence. While not strictly a developmental bone disease, scoliosis can be caused by various underlying conditions such as cerebral palsy, muscular dystrophy, or spina bifida.

Treatment for developmental bone diseases varies depending on the specific condition and its severity. Treatment may include medication, physical therapy, bracing, or surgery to correct deformities and improve function. Regular follow-up with a healthcare provider is essential to monitor growth, manage symptoms, and prevent complications.

Thnanatophoric Dysplasia is a severe skeletal disorder characterized by extreme short limbs, a narrow chest, and large head. It is one of the most common types of short-limbed dwarfism. The name "thanatophoric" comes from the Greek word thanatos, meaning death, as this condition is often lethal in the newborn period or shortly thereafter due to respiratory distress.

The disorder is caused by mutations in the FGFR3 gene, which provides instructions for making a protein that is part of a group of proteins called fibroblast growth factor receptors. These receptors play critical roles in many important processes during embryonic development, such as controlling bone growth.

There are two major types of thanatophoric dysplasia: type I and type II. Type I is characterized by curved thigh bones (femurs) and a clover-leaf shaped skull. Type II is characterized by straight femurs and an unossified (not fully developed) vertebral column.

The diagnosis of thanatophoric dysplasia can be made prenatally through ultrasound examination or postnatally through physical examination, X-rays, and genetic testing. Unfortunately, due to the severity of the condition, there is no cure for thanatophoric dysplasia and management is supportive in nature, focusing on providing comfort and addressing any complications that may arise.

A growth plate, also known as an epiphyseal plate or physis, is a layer of cartilaginous tissue found near the ends of long bones in children and adolescents. This region is responsible for the longitudinal growth of bones during development. The growth plate contains actively dividing cells that differentiate into chondrocytes, which produce and deposit new matrix, leading to bone elongation. Once growth is complete, usually in late adolescence or early adulthood, the growth plates ossify (harden) and are replaced by solid bone, transforming into the epiphyseal line.

Micrognathism is a medical term that refers to a condition where the lower jaw (mandible) is abnormally small or underdeveloped. This can result in various dental and skeletal problems, including an improper bite (malocclusion), difficulty speaking, chewing, or swallowing, and sleep apnea. Micrognathism may be congenital or acquired later in life due to trauma, disease, or surgical removal of part of the jaw. Treatment options depend on the severity of the condition and can include orthodontic treatment, surgery, or a combination of both.

Bone development, also known as ossification, is the process by which bone tissue is formed and grows. This complex process involves several different types of cells, including osteoblasts, which produce new bone matrix, and osteoclasts, which break down and resorb existing bone tissue.

There are two main types of bone development: intramembranous and endochondral ossification. Intramembranous ossification occurs when bone tissue forms directly from connective tissue, while endochondral ossification involves the formation of a cartilage model that is later replaced by bone.

During fetal development, most bones develop through endochondral ossification, starting as a cartilage template that is gradually replaced by bone tissue. However, some bones, such as those in the skull and clavicles, develop through intramembranous ossification.

Bone development continues after birth, with new bone tissue being laid down and existing tissue being remodeled throughout life. This ongoing process helps to maintain the strength and integrity of the skeleton, allowing it to adapt to changing mechanical forces and repair any damage that may occur.

Growth Hormone (GH), also known as somatotropin, is a peptide hormone secreted by the somatotroph cells in the anterior pituitary gland. It plays a crucial role in regulating growth, cell reproduction, and regeneration by stimulating the production of another hormone called insulin-like growth factor 1 (IGF-1) in the liver and other tissues. GH also has important metabolic functions, such as increasing glucose levels, enhancing protein synthesis, and reducing fat storage. Its secretion is regulated by two hypothalamic hormones: growth hormone-releasing hormone (GHRH), which stimulates its release, and somatostatin (SRIF), which inhibits its release. Abnormal levels of GH can lead to various medical conditions, such as dwarfism or gigantism if there are deficiencies or excesses, respectively.

Cyclic guanosine monophosphate (cGMP)-dependent protein kinase type II (PKG II) is a subtype of cGMP-dependent protein kinases, which are enzymes that play a crucial role in the regulation of various cellular functions. PKG II is specifically expressed in certain tissues such as the smooth muscle and the brain.

The activation of PKG II occurs when cGMP binds to the regulatory subunit of the enzyme, leading to the release and activation of the catalytic subunit. Once activated, PKG II phosphorylates specific serine and threonine residues on target proteins, which in turn modulate their activity, localization, or stability.

PKG II has been implicated in several physiological processes, including smooth muscle relaxation, platelet aggregation, neuronal signaling, and cardiovascular function. Dysregulation of PKG II has been associated with various pathological conditions such as hypertension, pulmonary arterial hypertension, heart failure, and neurodegenerative disorders.

Gigantism is a rare medical condition characterized by excessive growth and height significantly above average. This occurs due to an overproduction of growth hormone (GH), also known as somatotropin, during the growth phase in childhood. The pituitary gland, a small gland located at the base of the brain, is responsible for producing this hormone.

In gigantism, the pituitary gland releases too much GH, leading to abnormal bone and tissue growth. This condition is different from acromegaly, which is characterized by excessive GH production in adulthood after the growth phase has ended. In both cases, the excess GH can lead to various health complications, including cardiovascular disease, diabetes, hypertension, and joint problems.

Gigantism is typically caused by a benign tumor called a pituitary adenoma that presses against and stimulates the production of GH from the anterior pituitary gland. Treatment usually involves surgical removal of the tumor or medication to control GH levels, depending on the severity and progression of the condition. Early diagnosis and treatment are crucial for managing the symptoms and preventing long-term health complications associated with gigantism.

Brassinosteroids are a class of steroid hormones found in plants that play crucial roles in various aspects of plant growth and development. They were first discovered in the 1970s and are named after Brassica napus, the rape seed plant from which they were initially isolated. These hormones are involved in regulating processes such as cell division, cell elongation, vascular differentiation, stress tolerance, and photomorphogenesis.

Brassinosteroids function by interacting with specific receptor proteins located on the plasma membrane of plant cells. This interaction triggers a series of intracellular signaling events that ultimately lead to changes in gene expression and various cellular responses. Defects in brassinosteroid biosynthesis or signaling can result in dwarfism, reduced fertility, and other developmental abnormalities in plants.

Some well-known brassinosteroids include brassinolide, castasterone, and typhasterol. These hormones are present in trace amounts in plants but have significant effects on plant growth and development. Brassinosteroids also exhibit various stress tolerance-promoting activities, such as enhancing resistance to drought, salinity, extreme temperatures, and pathogen attacks.

In summary, brassinosteroids are a class of steroid hormones that play essential roles in regulating plant growth, development, and stress responses. They interact with specific receptor proteins on the plasma membrane, triggering intracellular signaling events leading to changes in gene expression and various cellular responses.

Heterocyclic steroids refer to a class of steroidal compounds that contain one or more heteroatoms such as nitrogen, oxygen, or sulfur in their ring structure. These molecules are characterized by having at least one carbon atom in the ring replaced by a heteroatom, which can affect the chemical and physical properties of the compound compared to typical steroids.

Steroids are a type of organic compound that contains a characteristic arrangement of four fused rings, three of them six-membered (cyclohexane) and one five-membered (cyclopentane) ring. The heterocyclic steroids can have various biological activities, including hormonal, anti-inflammatory, and immunomodulatory effects. They are used in the pharmaceutical industry to develop drugs for treating several medical conditions, such as hormone replacement therapy, autoimmune disorders, and cancer.

Examples of heterocyclic steroids include cortisol (a natural glucocorticoid with a heterocyclic side chain), estradiol (a natural estrogen containing a phenolic A-ring), and various synthetic steroids like anabolic-androgenic steroids, which may contain heterocyclic structures to enhance their biological activity or pharmacokinetic properties.

Chondrodysplasia punctata is a group of genetic disorders that affect the development of bones and cartilage. The condition is characterized by stippled calcifications, or spots of calcium deposits, in the cartilage that can be seen on X-rays. These spots are typically found at the ends of long bones, in the sternum, and in the pelvis.

The symptoms of chondrodysplasia punctata can vary widely depending on the specific type of the disorder. Some people with the condition may have short stature, bowed legs, and other skeletal abnormalities, while others may have only mild symptoms or no symptoms at all. The condition can also be associated with developmental delays, intellectual disability, and other health problems.

There are several different types of chondrodysplasia punctata, each caused by a different genetic mutation. Some forms of the disorder are inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Other forms of chondrodysplasia punctata are inherited in an X-linked dominant manner, meaning that a single copy of the mutated gene (on the X chromosome) is enough to cause the disorder in females. Males, who have only one X chromosome, will typically be more severely affected by X-linked dominant disorders.

There is no cure for chondrodysplasia punctata, and treatment is focused on managing the symptoms of the condition. This may include physical therapy, bracing or surgery to correct skeletal abnormalities, and medications to manage pain or other health problems.

Chondrocytes are the specialized cells that produce and maintain the extracellular matrix of cartilage tissue. They are responsible for synthesizing and secreting the collagen fibers, proteoglycans, and other components that give cartilage its unique properties, such as elasticity, resiliency, and resistance to compression. Chondrocytes are located within lacunae, or small cavities, in the cartilage matrix, and they receive nutrients and oxygen through diffusion from the surrounding tissue fluid. They are capable of adapting to changes in mechanical stress by modulating the production and organization of the extracellular matrix, which allows cartilage to withstand various loads and maintain its structural integrity. Chondrocytes play a crucial role in the development, maintenance, and repair of cartilaginous tissues throughout the body, including articular cartilage, costal cartilage, and growth plate cartilage.

'Abnormalities, Multiple' is a broad term that refers to the presence of two or more structural or functional anomalies in an individual. These abnormalities can be present at birth (congenital) or can develop later in life (acquired). They can affect various organs and systems of the body and can vary greatly in severity and impact on a person's health and well-being.

Multiple abnormalities can occur due to genetic factors, environmental influences, or a combination of both. Chromosomal abnormalities, gene mutations, exposure to teratogens (substances that cause birth defects), and maternal infections during pregnancy are some of the common causes of multiple congenital abnormalities.

Examples of multiple congenital abnormalities include Down syndrome, Turner syndrome, and VATER/VACTERL association. Acquired multiple abnormalities can result from conditions such as trauma, infection, degenerative diseases, or cancer.

The medical evaluation and management of individuals with multiple abnormalities depend on the specific abnormalities present and their impact on the individual's health and functioning. A multidisciplinary team of healthcare professionals is often involved in the care of these individuals to address their complex needs.

Osteopoikilosis is a rare, benign skeletal dysplasia characterized by multiple small, dense spots of sclerotic bone (osteosclerosis) in the spongy part (trabecular) of the bones. These spots are most commonly found in the short tubular bones of the hands and feet, as well as the long bones such as the femur and tibia. The condition is usually asymptomatic and discovered incidentally on X-ray or CT scan. It is typically present at birth or appears in early childhood, and it affects both sexes equally. Osteopoikilosis can be associated with other bone disorders, such as melorheostosis and Buschke-Ollendorff syndrome.

Somatotropin receptors are a type of cell surface receptor that binds to and gets activated by the hormone somatotropin, also known as growth hormone (GH). These receptors are found in many tissues throughout the body, including the liver, muscle, and fat. When somatotropin binds to its receptor, it activates a series of intracellular signaling pathways that regulate various physiological processes such as growth, metabolism, and cell reproduction.

Somatotropin receptors belong to the class I cytokine receptor family and are composed of two subunits, a homodimer of extracellular glycoproteins that bind to the hormone and an intracellular tyrosine kinase domain that activates downstream signaling pathways. Mutations in the somatotropin receptor gene can lead to growth disorders such as dwarfism or gigantism, depending on whether the mutation results in a decrease or increase in receptor activity.

"Body size" is a general term that refers to the overall physical dimensions and proportions of an individual's body. It can encompass various measurements, including height, weight, waist circumference, hip circumference, blood pressure, and other anthropometric measures.

In medical and public health contexts, body size is often used to assess health status, risk factors for chronic diseases, and overall well-being. For example, a high body mass index (BMI) may indicate excess body fat and increase the risk of conditions such as diabetes, hypertension, and cardiovascular disease. Similarly, a large waist circumference or high blood pressure may also be indicators of increased health risks.

It's important to note that body size is just one aspect of health and should not be used as the sole indicator of an individual's overall well-being. A holistic approach to health that considers multiple factors, including diet, physical activity, mental health, and social determinants of health, is essential for promoting optimal health outcomes.

Cholestanols are a type of sterol that is similar in structure to cholesterol. They are found in small amounts in the body and can also be found in some foods. Cholestanols are formed when cholesterol undergoes a chemical reaction called isomerization, which changes its structure.

Cholestanols are important because they can accumulate in the body and contribute to the development of certain medical conditions. For example, elevated levels of cholestanols in the blood have been associated with an increased risk of cardiovascular disease. Additionally, some genetic disorders can cause an accumulation of cholestanols in various tissues, leading to a range of symptoms such as liver damage, neurological problems, and cataracts.

Medically, cholestanols are often used as markers for the diagnosis and monitoring of certain conditions related to cholesterol metabolism.

Gibberellins (GAs) are a type of plant hormones that regulate various growth and developmental processes, including stem elongation, germination of seeds, leaf expansion, and flowering. They are a large family of diterpenoid compounds that are synthesized from geranylgeranyl pyrophosphate (GGPP) in the plastids and then modified through a series of enzymatic reactions in the endoplasmic reticulum and cytoplasm.

GAs exert their effects by binding to specific receptors, which activate downstream signaling pathways that ultimately lead to changes in gene expression and cellular responses. The biosynthesis and perception of GAs are tightly regulated, and disruptions in these processes can result in various developmental abnormalities and growth disorders in plants.

In addition to their role in plant growth and development, GAs have also been implicated in the regulation of various physiological processes, such as stress tolerance, nutrient uptake, and senescence. They have also attracted interest as potential targets for crop improvement, as modulating GA levels and sensitivity can enhance traits such as yield, disease resistance, and abiotic stress tolerance.

Congenital limb deformities refer to abnormalities in the structure, position, or function of the arms or legs that are present at birth. These deformities can vary greatly in severity and may affect any part of the limb, including the bones, muscles, joints, and nerves.

Congenital limb deformities can be caused by genetic factors, exposure to certain medications or chemicals during pregnancy, or other environmental factors. Some common types of congenital limb deformities include:

1. Clubfoot: A condition in which the foot is twisted out of shape, making it difficult to walk normally.
2. Polydactyly: A condition in which a person is born with extra fingers or toes.
3. Radial clubhand: A rare condition in which the radius bone in the forearm is missing or underdeveloped, causing the hand to turn inward and the wrist to bend.
4. Amniotic band syndrome: A condition in which strands of the amniotic sac wrap around a developing limb, restricting its growth and leading to deformities.
5. Agenesis: A condition in which a limb or part of a limb is missing at birth.

Treatment for congenital limb deformities may include surgery, bracing, physical therapy, or other interventions depending on the severity and nature of the deformity. In some cases, early intervention and treatment can help to improve function and reduce the impact of the deformity on a person's daily life.

A mutation is a permanent change in the DNA sequence of an organism's genome. Mutations can occur spontaneously or be caused by environmental factors such as exposure to radiation, chemicals, or viruses. They may have various effects on the organism, ranging from benign to harmful, depending on where they occur and whether they alter the function of essential proteins. In some cases, mutations can increase an individual's susceptibility to certain diseases or disorders, while in others, they may confer a survival advantage. Mutations are the driving force behind evolution, as they introduce new genetic variability into populations, which can then be acted upon by natural selection.

Cartilage is a type of connective tissue that is found throughout the body in various forms. It is made up of specialized cells called chondrocytes, which are embedded in a firm, flexible matrix composed of collagen fibers and proteoglycans. This unique structure gives cartilage its characteristic properties of being both strong and flexible.

There are three main types of cartilage in the human body: hyaline cartilage, elastic cartilage, and fibrocartilage.

1. Hyaline cartilage is the most common type and is found in areas such as the articular surfaces of bones (where they meet to form joints), the nose, trachea, and larynx. It has a smooth, glassy appearance and provides a smooth, lubricated surface for joint movement.
2. Elastic cartilage contains more elastin fibers than hyaline cartilage, which gives it greater flexibility and resilience. It is found in structures such as the external ear and parts of the larynx and epiglottis.
3. Fibrocartilage has a higher proportion of collagen fibers and fewer chondrocytes than hyaline or elastic cartilage. It is found in areas that require high tensile strength, such as the intervertebral discs, menisci (found in joints like the knee), and the pubic symphysis.

Cartilage plays a crucial role in supporting and protecting various structures within the body, allowing for smooth movement and providing a cushion between bones to absorb shock and prevent wear and tear. However, cartilage has limited capacity for self-repair and regeneration, making damage or degeneration of cartilage tissue a significant concern in conditions such as osteoarthritis.

A phenotype is the physical or biochemical expression of an organism's genes, or the observable traits and characteristics resulting from the interaction of its genetic constitution (genotype) with environmental factors. These characteristics can include appearance, development, behavior, and resistance to disease, among others. Phenotypes can vary widely, even among individuals with identical genotypes, due to differences in environmental influences, gene expression, and genetic interactions.

The metatarsal bones are a group of five long bones in the foot that connect the tarsal bones in the hindfoot to the phalanges in the forefoot. They are located between the tarsal and phalangeal bones and are responsible for forming the arch of the foot and transmitting weight-bearing forces during walking and running. The metatarsal bones are numbered 1 to 5, with the first metatarsal being the shortest and thickest, and the fifth metatarsal being the longest and thinnest. Each metatarsal bone has a base, shaft, and head, and they articulate with each other and with the surrounding bones through joints. Any injury or disorder affecting the metatarsal bones can cause pain and difficulty in walking or standing.

Pituitary diseases refer to a group of conditions that affect the pituitary gland, a small endocrine gland located at the base of the brain. The pituitary gland is responsible for producing and secreting several important hormones that regulate various bodily functions, including growth and development, metabolism, stress response, and reproduction.

Pituitary diseases can be classified into two main categories:

1. Pituitary tumors: These are abnormal growths in or around the pituitary gland that can affect its function. Pituitary tumors can be benign (non-cancerous) or malignant (cancerous), and they can vary in size. Some pituitary tumors produce excess hormones, leading to a variety of symptoms, while others may not produce any hormones but can still cause problems by compressing nearby structures in the brain.
2. Pituitary gland dysfunction: This refers to conditions that affect the normal function of the pituitary gland without the presence of a tumor. Examples include hypopituitarism, which is a condition characterized by decreased production of one or more pituitary hormones, and Sheehan's syndrome, which occurs when the pituitary gland is damaged due to severe blood loss during childbirth.

Symptoms of pituitary diseases can vary widely depending on the specific condition and the hormones that are affected. Treatment options may include surgery, radiation therapy, medication, or a combination of these approaches.

A "mutant strain of mice" in a medical context refers to genetically engineered mice that have specific genetic mutations introduced into their DNA. These mutations can be designed to mimic certain human diseases or conditions, allowing researchers to study the underlying biological mechanisms and test potential therapies in a controlled laboratory setting.

Mutant strains of mice are created through various techniques, including embryonic stem cell manipulation, gene editing technologies such as CRISPR-Cas9, and radiation-induced mutagenesis. These methods allow scientists to introduce specific genetic changes into the mouse genome, resulting in mice that exhibit altered physiological or behavioral traits.

These strains of mice are widely used in biomedical research because their short lifespan, small size, and high reproductive rate make them an ideal model organism for studying human diseases. Additionally, the mouse genome has been well-characterized, and many genetic tools and resources are available to researchers working with these animals.

Examples of mutant strains of mice include those that carry mutations in genes associated with cancer, neurodegenerative disorders, metabolic diseases, and immunological conditions. These mice provide valuable insights into the pathophysiology of human diseases and help advance our understanding of potential therapeutic interventions.

"Bone" is the hard, dense connective tissue that makes up the skeleton of vertebrate animals. It provides support and protection for the body's internal organs, and serves as a attachment site for muscles, tendons, and ligaments. Bone is composed of cells called osteoblasts and osteoclasts, which are responsible for bone formation and resorption, respectively, and an extracellular matrix made up of collagen fibers and mineral crystals.

Bones can be classified into two main types: compact bone and spongy bone. Compact bone is dense and hard, and makes up the outer layer of all bones and the shafts of long bones. Spongy bone is less dense and contains large spaces, and makes up the ends of long bones and the interior of flat and irregular bones.

The human body has 206 bones in total. They can be further classified into five categories based on their shape: long bones, short bones, flat bones, irregular bones, and sesamoid bones.

... is usually caused by a genetic variant; achondroplasia is caused by a mutation on chromosome 4. If dwarfism is caused ... The dwarfism often takes the form of simple short stature, without any deformities, thus leading to proportionate dwarfism. In ... Most people with dwarfism do not choose this option, and it remains controversial. For other types of dwarfism, surgical ... Because dwarfism is relatively uncommon, children may feel isolated from their peers. Dwarfism can result from many medical ...
... , a form of phyletic dwarfism, is the process and condition of large animals evolving or having a reduced body ... Keogh, J. S.; Scott, I. A. W.; Hayes, C. (January 2005). "Rapid and repeated origin of insular gigantism and dwarfism in ... In tiger snakes, insular dwarfism occurs on islands where available prey is restricted to smaller sizes than are normally taken ... There are several proposed explanations for the mechanism which produces such dwarfism. One is a selective process where only ...
These circumstances are common on islands, making insular dwarfism the most common form of phyletic dwarfism. Examples of this ... Phyletic dwarfism is the decrease in average size of animals of a species. There are a few circumstances that often lead to ... Phyletic dwarfism may have also helped give rise to birds from their much larger dinosaur ancestors. Perelman, P.; et al. (2011 ...
Gigantism Dwarfism Psychogenic dwarfism List of people with dwarfism Fima Lifshitz (2007). Pediatric Endocrinology: Growth, ... Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before ... The five subtypes of primordial dwarfism are among the most severe forms of the 200 types of dwarfism. There are as yet no ... More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, ...
... is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that ... Parastremmatic Dwarfism results from mutations within the N-ankyrin domain of TRPV4, which has been identified to be involved ... Parastremmatic dwarfism is apparent at birth, with affected infants usually being described as "stiff", or as "twisted dwarfs" ... Parastremmatic dwarfism is inherited in an autosomal dominant manner, which means that the defective gene responsible for the ...
Bantam dwarfism is a variety of dwarfism existing in many breeds of bantam chickens. Bantam chickens are also called miniatures ... The affected birds show no signs of dwarfism in the first weeks of age. Differences in size due to dwarfism appear slow and ... Hutt, F.B 1959 Sex-linked dwarfism in the fowl. Journal of Heredity 50:209-221 Cole, R.K. 1973 An autosomal dwarfism in the ... This is the best studied type of dwarfism in chickens. Sex-linked dwarfism in meat type breeds are first recognized by the ...
In the rabbit (Oryctolagus cuniculus), lethal dwarfism occurs in individuals homozygous for the dwarf allele (dwdw). ... "Dwarfism and Altered Craniofacial Development in Rabbits Is Caused by a 12.1 kb Deletion at the HMGA2 Locus". Genetics. 205 (2 ...
Dwarfism List of people with dwarfism List of shortest people Hefti, Fritz (2015). Kinderorthopädie in der Praxis (in German). ... List of dwarfism organizations around the world. Little People of Uganda Little People of Hong Kong 小而同罕有骨骼疾病基金會 Iranian Short ... Dwarfism, Human rights-related lists, Lists of organizations). ...
Dwarfism has been showcased across many types of media. As popular media has become more prevalent, a greater number of works ... Deep Roy, another actor with dwarfism, acted in movies such as Star Wars as an Ewok, and-his most famous role-all of the Oompa ... Several works of visual arts treat dwarfism as a major theme, with varying degrees of realism: In the 1960s and early 1970s, ... Orphan features an over-thirty-year-old woman with proportional dwarfism named Lena, who poses as a nine-year-old little girl ...
Dwarfism is caused by several different types of medical conditions, and is typically defined as an adultA with a height of 147 ... The following is a list of people who are known for their dwarfism and who have been open about it. While these people are not ... "What is Dwarfism?". PBS. Archived from the original on November 2, 2005. Retrieved May 18, 2018. Foster, Kate (Lady Davson). IN ... Records or mentions of people with dwarfism have not always been kept well, resulting in estimated heights that were taken from ...
Use dmy dates from January 2023, Articles with short description, Short description is different from Wikidata, Dwarfism, Rare ... Familial synovial chondromatosis with dwarfism is a rare genetic disorder characterized by a combination of both synovial ... Felbel, J.; Gresser, U.; Lohmöller, G.; Zöllner, N. (January 1992). "Familial synovial chondromatosis combined with dwarfism". ... "Entry - 186575 - SYNOVIAL CHONDROMATOSIS, FAMILIAL, WITH DWARFISM - OMIM". omim.org. Retrieved 22 August 2022. Steinberg, G. G ...
"Microcephalic primordial dwarfism, Montreal type". 2022-05-10. "OMIM Entry - 210700 - MICROCEPHALIC PRIMORDIAL DWARFISM, ... Microcephalic primordial dwarfism, Montreal type is a rare, multi-systemic genetic disorder that is characterized by cranio- ... described a patient with a type of bird-headed dwarfism, he described the symptoms mentioned above, some of the symptoms ... "Orphanet: Microcephalic primordial dwarfism, Montreal type". www.orpha.net. Retrieved 2022-05-11. "OMIM Clinical Synopsis - ...
"Keratosis follicularis dwarfism and cerebral atrophy". 16 June 2022. "Keratosis Follicularis Dwarfism and Cerebral Atrophy". ... Keratosis follicularis-dwarfism-cerebral atrophy syndrome is a rare, presumably X-linked recessive genetic disorder ... "Keratosis follicularis dwarfism and cerebral atrophy - About the Disease - Genetic and Rare Diseases Information Center". ... "Orphanet: Keratosis follicularis dwarfism cerebral atrophy syndrome". www.orpha.net. Retrieved 2022-09-25. " ...
... or (ACD intellectual disability syndrome) is a developmental ... "Alopecia-contractures-dwarfism-intellectual disability syndrome , Genetic and Rare Diseases Information Center (GARD) - an ... disorder which causes mainly baldness and dwarfism in combination with intellectual disability; skeletal anomalies, caries and ...
... is a very rare genetic disorder which is characterized by moderate-severe short ... "DWARFISM, FAMILIAL, WITH MUSCLE SPASMS". www.omim.org. Retrieved 2022-06-02. (Orphaned articles from June 2022, All orphaned ... Sica, R. E.; Espinoza, R.; Benavente, O.; Sanz, O. P.; Molina, H. (1995). "Familial dwarfism and painful muscle spasms". ...
... (MOPD II) is a form of primordial dwarfism associated with brain and ... "Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism". Am. J. Med. Genet. 12 (1 ... Hall JG, Flora C, Scott CI Jr, Pauli RM, Tanaka KI (Sep 2004). "Majewski osteodysplastic primordial dwarfism type II (MOPD II ... Lucia Zarate, sideshow entertainer Bridgette Jordan, smallest living woman until her death in 2019 Primordial dwarfism Majewski ...
"Ichthyosis-intellectual disability-dwarfism-renal impairment". 16 June 2022. "Ichthyosis-intellectual disability-dwarfism-renal ... Ichthyosis-intellectual disability-dwarfism-renal impairment is a very rare autosomal recessive ichthyotic genetic disorder ... "OMIM Entry - 242530 - ICHTHYOSIS, MENTAL RETARDATION, DWARFISM, AND RENAL IMPAIRMENT". "Orphanet: Ichthyosis intellectual ... disability dwarfism renal impairment syndrome". "Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome. Also ...
... is a very rare genetic disorder which is characterized ... "Dwarfism, low-birth-weight type with unresponsiveness to growth hormone , Genetic and Rare Diseases Information Center (GARD ... "OMIM Entry - 223500 - DWARFISM, LOW-BIRTH-WEIGHT TYPE, WITH UNRESPONSIVENESS TO GROWTH HORMONE". omim.org. Retrieved 2022-06-12 ... "Dwarfism Low-Birth-Weight Type with Unresponsiveness to Growth Hormone symptoms & causes". FDNA Telehealth. Retrieved 2022-06- ...
... dwarfism; dyslexia; epilepsy; fetal alcohol syndrome disorders (FASD); generalized anxiety disorder; hearing impairment; ...
"Dwarfism". Retrieved 2007-12-23. Gidney, Louisa (May-June 2007). "Earliest Archaeological Evidence of the Ancon Mutation in ... People with chondrodystrophy have a normal-sized trunk and abnormally short limbs and extremities (dwarfism). Those affected ... or the child may suffer from chondrodystrophy or dwarfism. This means that even though both parents are completely normal in ...
... is the most common cause of dwarfism and affects about 1 in 27,500 people. Disproportionate dwarfism Shortening ... and advocacy for individuals with dwarfism, including achondroplasia. Based on their disproportionate dwarfism, some dog breeds ... The dwarfism was inherited dominant in the offspring from this litter. The piglets were born phenotypically normal but became ... "Dwarfism". kidshealth.org. Retrieved 26 September 2018. "Achondroplasia , Genetic and Rare Diseases Information Center (GARD ...
She was born with achondroplasia, a common cause of dwarfism. Both of Cokley's parents were born with the same kind of dwarfism ... "My Family Cokley". UNDERSTANDING DWARFISM. Retrieved 2017-09-22. "OBIT". scholar.lib.vt.edu. Retrieved 2022-10-17. "About ... People with dwarfism, American activists with disabilities, Activists from Washington, D.C., American nonprofit executives, ...
cite book}}: ,work= ignored (help) Nissenbaum M, Chung SM, Rosenberg HK, Buck BE (August 1977). "Thanatophoric dwarfism. Two ... "Entrez Gene: FGFR3 fibroblast growth factor receptor 3 (achondroplasia, thanatophoric dwarfism)". Foldynova-Trantirkova S, ... "Fibroblast growth factor receptor 3 mutations in achondroplasia and related forms of dwarfism". Reviews in Endocrine & ...
"Why Dwarfism?". SAPIENS. Retrieved 2022-05-27. "Study backs 'hobbit' island dwarfism theory". BBC News. 2013-04-17. Retrieved ... this time was that Homo erectus moved to Flores and over time their brains began to decrease in size due to island dwarfism, an ...
"Feline Dwarfism". Basepaws. 2019-03-06. Retrieved 2019-09-14. Wedderburn, Pete (October 2008). "Cat breeds-Trophies with hidden ... the genetic disorder that results in dwarfism and is typically associated with an enlarged head as well as short legs but can ...
She has dwarfism. Berry is the youngest of four children born to parents Romilyn "Lynn" and Perry Berry Sr. Her father is ... Actors with dwarfism, Living people, 1994 births, Actresses from Manila, All stub articles, Filipino actor stubs). ... Spanish-American, and the president of the Little People's Association of the Philippines (LPAP). Berry was born with dwarfism ...
SHOXY Laron dwarfism; 262500; GHR Larsen syndrome; 150250; FLNB Laryngoonychocutaneous syndrome; 245660; LAMA3 Lathosterolosis ... SLC25A3 Microcephalic osteodysplastic primordial dwarfism type II; 210720; PCNT Microcephaly and digital abnormalities with ...
While not a medical term like dwarf (for a person with dwarfism, a medical condition with a number of causes, most often ... List of dwarfism organisations Dwarf-tossing Midgetville Singer's Midgets Midgets vs. Mascots Pygmy peoples Munchkin Oompa ... What is Dwarfism?". Public Broadcasting Service. Retrieved 2008-11-18. Thomson, Rosemarie Garland (1996). Freakery: Cultural ... Kennedy, Dan (2005-05-23). "What is Dwarfism?". American Documentary. Retrieved 2008-10-11. The World Book Dictionary. 2003. pp ...
He has dwarfism. Romy Pastrana was scouted by singer-host Randy Santiago in 1998. Santiago would later dub him as "Dagul" which ... All of Dagul's children, except his only daughter who is also the youngest child, did not inherit his dwarfism condition. Weng ... Actors with dwarfism, Filipino people with disabilities, Filipino actor-politicians, Filipino male comedians, Filipino male ...
"Dwarfism Awareness Month". www.lpaonline.org. "Cur8able sur Apple Podcasts". Apple Podcasts (in French). 5 March 2020. "Spirit ... To mark the 75th Anniversary of Disability Employment Awareness Month and Dwarfism Awareness Month in October 2020, Thomas ...
Dwarfism is usually caused by a genetic variant; achondroplasia is caused by a mutation on chromosome 4. If dwarfism is caused ... The dwarfism often takes the form of simple short stature, without any deformities, thus leading to proportionate dwarfism. In ... Most people with dwarfism do not choose this option, and it remains controversial. For other types of dwarfism, surgical ... Because dwarfism is relatively uncommon, children may feel isolated from their peers. Dwarfism can result from many medical ...
Dwarfism is usually the result of a genetic mutation. But having a gene or genes responsible for dwarfism can occur in a couple ... Disproportionate dwarfism. This is the most common kind of dwarfism. As the name suggests, its characterized by having body ... The average height of an adult with dwarfism is 4 feet, but dwarfism could apply to an adult who is 410" or shorter. ... If the babys appearance suggests dwarfism, or if the parents know they carry a gene for dwarfism, a doctor may recommend ...
... dwarfism) with other skeletal abnormalities (osteodysplasia) and an unusually small head size (microcephaly). Explore symptoms ... Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature ( ... Microcephalic osteodysplastic primordial dwarfism type II (MOPDII) is a condition characterized by short stature (dwarfism) ... Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype. Am J Med Genet A. 2010 Apr; ...
The Halo for Children with Dwarfism. Understanding Dwarfism. Growing Stronger and Doctella ... Dwarfism Support Organizations and Groups. LPA is committed to providing a database of links that is accurate, up to date and ...
Dwarfism: Emilys Story (Video). Article Translations: (Spanish). Emily was adopted from Russia, where she was born with a ...
This book provides an in-depth analysis of the social and spatial experiences of people with dwarfism, an impairment that ... This book engages with the concept that dwarfisms most prominent feature - body size and shape - can form the basis of social ... This book provides an in-depth analysis of the social and spatial experiences of people with dwarfism, an impairment that ... Chapter 5 - Cultural Representations of People with Dwarfism and the Social Consequences. ...
This form of dwarfism is not due to hormonal imbalances. Pedigree analysis suggests that it is inherited in an autosomal ... The investigators hypothesize that dwarfism in Great Pyrenees dogs has a genetic basis in which whole genome scans with DNA ... Great Pyrenees dwarfism is not fatal, but is a chondrodysplasia first scientifically described in the mid-1990s. Pups appeared ... markers can identify a small chromosomal region that will contain a dwarfism-associated gene, and that high-throughput DNA ...
Tag archive for Dwarfism. Want more amazing articles related to Dwarfism? Please subscribe below well notify you when we ...
Biologists in Sri Lanka have published the first documented evidence of dwarfism in an adult wild animal. A male Asian elephant ... Dwarfism is a condition in which either the limbs are disproportionately short relative to the body, or the whole body is in ... However, dwarfism in the wild is incredibly rare. "If you think about it, most animals, especially mammals, are either ... Dwarfism is heritable, but the outcome for potential offspring is unclear. "As we do not know which mutation is responsible in ...
Dwarfism is a medical condition which can retard your growth physically and make you an official ... But all dwarfism can be broadly classified into two categories; Disproportionate dwarfism and proportionate dwarfism. We will ... Disproportionate Dwarfism. This type of dwarfism is diagnosed when the body size is disproportionate. That is, when some parts ... Dwarfism is a highly visible condition and often carries negative connotations in society. People with dwarfism were often used ...
An actor with a rare form of dwarfism is dismayed that a production company is continuing to cast children as dwarfs in its ... North Wales actor with dwarfism unhappy children are cast as dwarfs in Christmas pantos. ...
... is common in children with dwarfism. CHOA says the disorder is caused by the fact that the heads of children with dwarfism are ... Wyatt was born at 37 weeks and diagnosed with Spondyloepiphyseal Dysplasia (SED), a very rare, but not lethal, form of dwarfism ... Toddler with rare form of dwarfism says rise up. Published February 3, 2017. ...
Provenance (from the French provenir, to come from/forth) is the chronology of the ownership, custody, or location of a historical object ...
We tested the hypothesis that a variant of the LIM homeodomain gene LHX4 is responsible for the dwarfism phenotype. To this end ... Pituitary dwarfism in the German shepherd dog is an autosomal recessive inherited abnormality. ... Genotyping 5 litters in which the dwarfism was segregating showed disconcordance between the inheritance of the dwarfism ... Pituitary dwarfism in the German shepherd dog is an autosomal recessive inherited abnormality. We tested the hypothesis that a ...
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Re: Higher functioning Pseudo-Dwarfism in squirrels? That boy clearly loves you. What a blessing to have earned the trust of a ...
Student young man with dwarfism reads at home, loves to learn and read. 21811144 royalty-free Stock Video from Vecteezy and ... Student young man with dwarfism reads at home, loves to learn and read. Pro Video ...
Nine children with primordial dwarfism are described and a new syndrome is delineated. The significant features of this ... Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. ... Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. ...
Dwarfism is who I am. Finally, listen to our stories. No, its not the "PC brigade" or "PC gone mad". Those are just excuses ... "Strangers grab me in bars": The reality of being a man with dwarfism in 2018 Tyrion Lannister does not make up for years of ... Such violence can be then re-enacted in real life, as it was in the savage attack on Martin Henderson, a man with dwarfism who ... "But what do we call people with dwarfism?" I hear you ask. I recently explained this on Twitter: its best to politely ask the ...
... News By TooFab Staff , 8/22/2022 1:35 PM ... Bayles was born with Achondroplasia, a genetic condition that results in dwarfism. ...
Couple With Dwarfism on How They Met in a Unique Cafe. Read About Bhairappa and Roopas Story Here. ... Read more on: bengaluru Bhairappa catering event corona Corona virus covid-19 Disability dwarf dwarfism event heartwarming ... Whats unique about their love story is that both Bhairappa and Roopa have dwarfism and deal with motor challenges.. Bhairappa ...
Dwarfism results due to (a) excessive secretion of thyroxine hormone (b)excessive secretion of growth hormone (c) less ... Dwarfism results due to:(a) excessive secretion of thyroxine hormone (b)excessive secretion of growth hormone (c) less ... Answer the following:(a) Which hormone is responsible for the changes noticed in females at puberty?(b) Dwarfism results due to ... Less secretion of GH results in dwarfism ...
thanatophoric dwarfism or dwarf Last reviewed 01/2018. Thanatophoric dysplasia (TD) is the most common neonatal lethal skeletal ...
"When I knew that I had dwarfism, I didnt really want to have to do that because I didnt know anyone else - any other people ... Ava will return to the hospital a couple of times a year until shes 18 for check-ins related to her dwarfism. Despite those ... Small is mighty: B.C. child with dwarfism stars in childrens hospital campaign. Ava Secuur was part of a video campaign for ... Ava has achondroplasia, the most common form of dwarfism, and has spent numerous nights in BC Childrens Hospital in Vancouver ...
cartilage, DDRGK1, dwarfism, Genetics, SEMD, Skeletal dysplasia, SOX9. SEMD, Shohat-type spondyloepimetaphyseal dysplasia, is a ... rare type of skeletal dysplasia that affects the development of cartilage and results in a form of dwarfism with a ...
This article is about dwarfism in children- its causes symptoms and how it can be treated effectively. ... 2. Disproportionate Dwarfism. Disproportionate dwarfism is a common type of dwarfism and is visible as the body parts are not ... What is Dwarfism?. Dwarfism or short stature is defined as a height ≥2 standard deviations below mean for the age and sex of a ... Symptoms of Dwarfism. There are a few signs of dwarfism in babies, which can give you an idea as to whether your child is ...
FLUGE G, AARSKOG D. Silver-Russell Dwarfism and Cystic Fibrosis. Am J Dis Child. 1974;127(5):760-761. doi:10.1001/archpedi. ...
Disorders causing disproportionate dwarfism inhibit the development of bones. Disproportionate dwarfism is characterized by ... Proportionate dwarfism: A body is proportionately small if all parts of the body are small to the same degree and appear to be ... It defines dwarfism as a medical or genetic condition that usually results in an adult height of 4 8 or shorter among both ... It defines dwarfism as a medical or genetic condition that usually results in an adult height of 4 8 or shorter among both ...
dwarfism Seeing my daughter in a new light at the preschool dance show. Read More ...

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