Receptor, Fibroblast Growth Factor, Type 3
Cyclic GMP-Dependent Protein Kinase Type II
Limb Deformities, Congenital
Bone and Bones
Neuronal Migration Disorders
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)
1. Medical Definition: In medicine, dwarfism is defined as a condition where an individual's height is significantly below the average range for their age and gender. The term "dwarfism" is often used interchangeably with "growth hormone deficiency," but the two conditions are not the same. Growth hormone deficiency is a specific cause of dwarfism, but there can be other causes as well, such as genetic mutations or chromosomal abnormalities.
2. Genetic Definition: From a genetic perspective, dwarfism can be defined as a condition caused by a genetic mutation or variation that results in short stature. There are many different genetic causes of dwarfism, including those caused by mutations in the growth hormone receptor gene, the insulin-like growth factor 1 (IGF1) gene, and other genes involved in growth and development.
3. Anthropological Definition: In anthropology, dwarfism is defined as a physical characteristic that is considered to be outside the normal range for a particular population or culture. This can include individuals who are short-statured due to various causes, including genetics, nutrition, or environmental factors.
4. Social Definition: From a social perspective, dwarfism can be defined as a condition that is perceived to be different or abnormal by society. Individuals with dwarfism may face social stigma, discrimination, and other forms of prejudice due to their physical appearance.
5. Legal Definition: In some jurisdictions, dwarfism may be defined as a disability or a medical condition that is protected by anti-discrimination laws. This can provide legal protections for individuals with dwarfism and ensure that they have access to the same rights and opportunities as others.
In summary, the definition of dwarfism can vary depending on the context in which it is used, and it may be defined differently by different disciplines and communities. It is important to recognize and respect the diversity of individuals with dwarfism and to provide support and accommodations as needed to ensure their well-being and inclusion in society.
The diagnosis of achondroplasia is typically made based on physical examination, medical history, and imaging studies such as X-rays or CT scans. There is no cure for achondroplasia, but treatment may include physical therapy, occupational therapy, and surgery to correct associated health problems such as spinal curvature or bowed legs.
The prognosis for individuals with achondroplasia varies depending on the severity of the condition and the presence of any associated health problems. With proper medical care and support, many individuals with achondroplasia can lead active and fulfilling lives. However, they may face challenges related to social stigma, access to education and employment, and other aspects of daily life.
The prevalence of achondroplasia is estimated to be about 1 in 25,000 to 1 in 40,000 births. It affects both males and females equally, and there is no known ethnic or racial predilection. There is a high risk of recurrence in families, with a 50% chance that an affected parent will pass the mutated gene to each child.
In conclusion, achondroplasia is a rare genetic disorder that affects the development of cartilage and bone, leading to short stature and characteristic physical features. While there is no cure for the condition, proper medical care and support can help individuals with achondroplasia lead fulfilling lives. With increased awareness and understanding of the condition, more individuals with achondroplasia are able to access education, employment, and other resources that support their well-being and independence.
The term "Osteochondrodysplasias" comes from the Greek words "osteo," meaning bone; "chondro," meaning cartilage; and "dysplasia," meaning abnormal growth or development. These disorders can affect people of all ages, but are most commonly seen in children and young adults.
There are many different types of OCDs, each with its own unique set of symptoms and characteristics. Some of the most common types include:
* Brittle bone disease (osteogenesis imperfecta): This is a condition in which the bones are prone to fractures, often without any obvious cause.
* Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome: This is a rare condition that affects the hands, feet, and joints, causing stiffness, pain, and limited mobility.
* Diaphyseal dysplasia: This is a condition in which the bones in the arms and legs are abnormally short and brittle.
* Epiphyseal dysplasia: This is a condition in which the growth plates at the ends of the long bones are abnormal, leading to short stature and other skeletal deformities.
There is no cure for OCDs, but treatment options are available to manage symptoms and improve quality of life. These may include physical therapy, braces or orthotics, medications to manage pain and inflammation, and in some cases, surgery. Early diagnosis and intervention are important to help manage the condition and prevent complications.
* Genetic mutations or chromosomal abnormalities
* Infections during pregnancy, such as rubella or toxoplasmosis
* Exposure to certain medications or chemicals during pregnancy
* Maternal malnutrition or poor nutrition during pregnancy
* Certain medical conditions, such as hypothyroidism or anemia.
Microcephaly can be diagnosed by measuring the baby's head circumference and comparing it to established norms for their age and gender. Other signs of microcephaly may include:
* A small, misshapen head
* Small eyes and ears
* Developmental delays or intellectual disability
* Seizures or other neurological problems
* Difficulty feeding or sucking
There is no cure for microcephaly, but early diagnosis and intervention can help manage the associated symptoms and improve quality of life. Treatment may include:
* Monitoring growth and development
* Physical therapy to improve muscle tone and coordination
* Occupational therapy to develop fine motor skills and coordination
* Speech therapy to improve communication skills
* Medication to control seizures or other neurological problems.
In some cases, microcephaly may be associated with other medical conditions, such as intellectual disability, autism, or vision or hearing loss. It is important for individuals with microcephaly to receive regular monitoring and care from a team of healthcare professionals to address any related medical issues.
1. Osteogenesis imperfecta (OI): This is a genetic disorder that affects the formation of collagen, which is essential for bone strength and density. People with OI have brittle bones that are prone to fractures, often from minimal trauma.
2. Achondroplasia: This is the most common form of short-limbed dwarfism, caused by a genetic mutation that affects the development of cartilage and bone. People with achondroplasia have short stature, short limbs, and characteristic facial features.
3. Cleidocranial dysostosis: This is a rare genetic disorder that affects the development of the skull and collarbones. People with cleidocranial dysostosis may have misshapen or absent collarbones, as well as other skeletal abnormalities.
4. Fibrous dysplasia: This is a benign bone tumor that can affect any bone in the body. It is caused by a genetic mutation that causes an overgrowth of fibrous tissue in the bone, leading to deformity and weakness.
5. Multiple epiphyseal dysplasia (MED): This is a group of disorders that affect the growth plates at the ends of long bones, leading to irregular bone growth and deformity. MED can be caused by genetic mutations or environmental factors.
These are just a few examples of developmental bone diseases. There are many other conditions that can affect the formation and development of bones during fetal life or childhood, each with its own unique set of symptoms and characteristics.
TD is caused by mutations in the foxh1 gene, which plays a crucial role in regulating the expression of genes involved in embryonic development. The disorder is usually diagnosed during the second trimester of pregnancy, and it affects approximately 1 in 20,000 to 1 in 50,000 births worldwide.
Characteristic features of TD include:
* Severe growth restriction
* Microcephaly (a small head)
* Limb deformities
* Spina bifida (a type of neural tube defect)
* Cleft palate and other facial abnormalities
* Hydrocephalus (fluid accumulation in the brain)
* Respiratory and gastrointestinal problems
There is no cure for TD, and treatment is focused on managing symptoms and supporting the family. The condition is often fatal before or shortly after birth, with survival rates ranging from 10% to 30%. However, some individuals with TD may live into their teenage years or even longer if they receive appropriate medical care and support.
The diagnosis of TD is based on a combination of prenatal ultrasound findings, fetal MRI, and genetic testing. Prenatal testing for TD is typically offered to families who have a known family history of the condition or who are at increased risk due to other factors such as advanced maternal age or a previous child with a genetic disorder.
There are several support organizations and resources available for families affected by TD, including the Thanatophoric Dysplasia Family Foundation and the National Organization for Rare Disorders (NORD). These organizations can provide information, support, and advocacy for individuals and families affected by the condition.
Micrognathism can lead to several oral health issues, including difficulty chewing, speaking, and breathing. It can also cause aesthetic concerns, as the smaller lower jaw can give the appearance of a "weak" or "receding" chin.
Treatment options for micrognathism depend on the underlying cause and severity of the condition. In mild cases, orthodontic treatment may be sufficient to correct the bite and improve oral function. In more severe cases, surgical intervention may be necessary to lengthen the lower jaw and achieve proper alignment of the teeth and jaws.
In addition to oral health issues, micrognathism can also impact an individual's overall quality of life, as it can affect their self-esteem and confidence. Therefore, it is important for individuals with micrognathism to receive proper diagnosis and treatment from a team of specialists, including orthodontists, oral surgeons, and other healthcare professionals.
Micrognathism comes from the Greek words "mikros," meaning small, and "gnathos," meaning jaw.
"The patient was diagnosed with micrognathism, which was causing difficulty chewing and speaking, as well as aesthetic concerns."
In medicine, gigantism is typically diagnosed based on a combination of clinical features, including:
1. Excessive height: Gigantism is defined as a height that is two or more standard deviations above the mean for age and gender.
2. Proportional body size: The excessive height is accompanied by proportionate increases in other body dimensions, such as arm and leg length.
3. Obesity: Gigantism can also be associated with obesity, particularly in adults.
4. Coarsening of facial features: Individuals with gigantism may have a coarse or irregular appearance to their face, including a large jaw, prominent forehead, and heavy eyebrows.
5. Skin thickness: The skin may be thicker than normal, leading to a rough, scaly texture.
6. Skeletal abnormalities: Gigantism can be associated with skeletal abnormalities, such as bowed legs or a large head.
7. Endocrine disorders: Gigantism is often caused by an overproduction of growth hormone, which can be due to a benign tumor on the pituitary gland or another endocrine disorder.
Treatment for gigantism typically involves surgery to remove the tumor or other underlying cause of the condition. In some cases, medications may be used to reduce growth hormone production and slow down growth.
In summary, gigantism is a rare condition characterized by excessive height and proportional body size, often due to an overproduction of growth hormone. It can be associated with various physical features and endocrine disorders, and treatment typically involves surgery or medication to reduce growth hormone production.
The term "chondrodysplasia" refers to a group of disorders that affect the development of cartilage and bone, while "punctata" means "spotted" or "speckled" in Latin. This refers to the characteristic punctate (small, dark spots) appearance of the skin and other tissues in individuals with CDP.
CDP is caused by mutations in genes that are involved in the formation and maintenance of cartilage and bone. The disorder typically affects both males and females equally, and the age of onset and severity of symptoms can vary widely. In addition to the characteristic physical features of CDP, individuals with this condition may also experience joint pain, hearing loss, and other health problems.
There is no cure for chondrodysplasia punctata, but treatment options are available to manage the associated symptoms and improve quality of life. These may include physical therapy, medication, and surgery. With appropriate care and support, individuals with CDP can lead fulfilling lives despite their condition.
Some examples of multiple abnormalities include:
1. Multiple chronic conditions: An individual may have multiple chronic conditions such as diabetes, hypertension, arthritis, and heart disease, which can affect their quality of life and increase their risk of complications.
2. Congenital anomalies: Some individuals may be born with multiple physical abnormalities or birth defects, such as heart defects, limb abnormalities, or facial deformities.
3. Mental health disorders: Individuals may experience multiple mental health disorders, such as depression, anxiety, and bipolar disorder, which can impact their cognitive functioning and daily life.
4. Neurological conditions: Some individuals may have multiple neurological conditions, such as epilepsy, Parkinson's disease, and stroke, which can affect their cognitive and physical functioning.
5. Genetic disorders: Individuals with genetic disorders, such as Down syndrome or Turner syndrome, may experience a range of physical and developmental abnormalities.
The term "multiple abnormalities" is often used in medical research and clinical practice to describe individuals who have complex health needs and require comprehensive care. It is important for healthcare providers to recognize and address the multiple needs of these individuals to improve their overall health outcomes.
The exact cause of osteopoikilosis is not known, but it has been linked to various factors such as genetic mutations, hormonal imbalances, and infections. The disorder typically affects children and young adults, with males being more frequently affected than females.
Symptoms of osteopoikilosis can include bone pain, swelling, and limited mobility in the affected limb. The disorder is often diagnosed incidentally on imaging studies performed for other reasons. Treatment options for osteopoikilosis are limited and may include observation, physical therapy, and medication to manage symptoms. Surgical intervention is rarely necessary.
While osteopoikilosis is not a life-threatening condition, it can have a significant impact on quality of life due to the pain and limitations it can cause. Therefore, early diagnosis and appropriate management are important to improve outcomes for affected individuals.
Note: The medical information provided here is for general purposes only and should not be considered a substitute for professional medical advice, diagnosis, or treatment. If you suspect that your child may have a congenital limb deformity, it is important to consult with a qualified healthcare provider as soon as possible.
The pituitary gland is a small endocrine gland located at the base of the brain that plays a crucial role in regulating various bodily functions, such as growth and development, metabolism, and reproductive function. Pituitary diseases refer to any disorders or abnormalities that affect the pituitary gland, including tumors, cysts, hypopituitarism (underactive pituitary gland), hyperpituitarism (overactive pituitary gland), and other conditions.
Some common types of pituitary diseases include:
1. Pituitary tumors: These are abnormal growths that can occur in the pituitary gland, either benign (non-cancerous) or malignant (cancerous). The most common type of pituitary tumor is a benign adenoma, which can cause excessive production of hormones and lead to various symptoms.
2. Cushing's disease: This is a rare disorder caused by excessive production of the hormone cortisol, which can lead to weight gain, high blood pressure, and other symptoms.
3. Hypopituitarism: This condition occurs when the pituitary gland does not produce enough hormones, leading to symptoms such as fatigue, weight loss, and poor fertility.
4. Hyperthyroidism: This is a condition in which the thyroid gland produces too much thyroid hormone, leading to symptoms such as rapid heartbeat, weight loss, and anxiety.
5. Acromegaly: This is a rare disorder caused by excessive production of growth hormone, leading to symptoms such as abnormal growth of hands, feet, and facial features, as well as joint pain and sleep apnea.
6. Pituitary giants: These are rare cases of pituitary tumors that can cause excessive growth and development in children.
7. Pituitary dwarfism: This is a condition in which the pituitary gland does not produce enough growth hormone, leading to short stature and other growth abnormalities.
8. Cushing's syndrome: This is a rare disorder caused by excessive production of the hormone cortisol, which can lead to symptoms such as weight gain, high blood pressure, and poor sleep.
9. Adrenal insufficiency: This is a condition in which the adrenal glands do not produce enough cortisol and aldosterone hormones, leading to symptoms such as fatigue, weight loss, and low blood pressure.
10. Multiple endocrine neoplasia (MEN): This is a rare genetic disorder that affects the endocrine system and can cause various types of tumors, including pituitary, thyroid, and adrenal gland tumors.
These are just a few examples of rare hormonal disorders. There are many others, each with its unique set of symptoms and causes. If you suspect that you or someone you know may have a hormonal disorder, it is important to consult a qualified healthcare professional for proper diagnosis and treatment.
The term "neuronal migration" refers to the process by which immature neurons migrate through the developing brain and eventually settle in their final positions. This process is crucial for proper brain development and function. Disruptions in this process can lead to a range of neurological problems, including:
* Hydrocephalus: an accumulation of fluid in the brain that can cause increased intracranial pressure and enlargement of the head.
* Cerebral cortical dysplasia: abnormalities in the development of the cerebral cortex, which can lead to a range of cognitive and behavioral problems.
* Cerebellar hypoplasia: underdevelopment of the cerebellum, which can cause coordination and balance problems, as well as difficulty with fine motor skills.
* Brain stem dysgenesis: abnormalities in the development of the brain stem, which can affect breathing, heart rate, and other vital functions.
Neuronal migration disorders can be caused by a variety of genetic mutations or environmental factors, such as maternal infection or exposure to certain drugs during pregnancy. Diagnosis is typically made through a combination of clinical evaluation, imaging studies (such as MRI or CT scans), and genetic testing. Treatment options vary depending on the specific disorder and severity of symptoms, and may include medication, surgery, or other forms of therapy.
In summary, neuronal migration disorders are a group of developmental brain disorders that can result from abnormalities in the proper formation and organization of neurons during fetal development. These disorders can lead to a range of cognitive, motor, and behavioral problems, and can be caused by a variety of genetic mutations or environmental factors.
Dwarfism in chickens
Lethal Dwarfism in Rabbits
List of dwarfism organisations
Cultural depictions of dwarfism
List of people with dwarfism
Familial synovial chondromatosis with dwarfism
Microcephalic primordial dwarfism, Montreal type
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Alopecia contractures dwarfism intellectual disability syndrome
Familial dwarfism and painful muscle spasms
Microcephalic osteodysplastic primordial dwarfism type II
Ichthyosis-intellectual disability-dwarfism-renal impairment
Dwarfism, low-birth-weight type with unresponsiveness to growth hormone
Kupenda for the Children
Fibroblast growth factor receptor 3
Jo Berry (actress)
List of OMIM disorder codes
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- Primary microcephaly and microcephalic primordial dwarfism (MPD) are a spectrum of genetic disorders characterized by reduced brain size and, in MPD, reduced body size. (nih.gov)
- Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. (mendelian.co)
- Doctors, researchs, and experts related to Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii extracted from public data. (mendelian.co)
- Comprehensive Primordial Dwarfism Panel. (mendelian.co)
- Microcephalic Osteodysplastic Primordial Dwarfism, Type I. (mendelian.co)
- Microcephalic osteodysplastic primordial dwarfism type I (sequence analysis of RNU4ATAC gene). (mendelian.co)
- Microcephalic primordial dwarfism Deletion / Duplication panel. (mendelian.co)
- DelveInsight's "Primordial Dwarfism Market Insights, Epidemiology, and Market Forecast-2032" report delivers an in-depth understanding of the Primordial Dwarfism, historical and forecasted epidemiology as well as the Primordial Dwarfism market trends in the United States, EU4 (Germany, Spain, Italy, France, and the United Kingdom) and Japan. (panajijournal.com)
- Primordial dwarfism (PD) is a form of dwarfism that results in a smaller body size in all stages of life beginning from before birth. (panajijournal.com)
- More specifically, primordial dwarfism is a diagnostic category including specific types of profoundly proportionate dwarfism, in which individuals are extremely small for their age, even as a fetus. (panajijournal.com)
- Most individuals with primordial dwarfism are not diagnosed until they are about 3-5 years of age. (panajijournal.com)
- Typically, people with primordial dwarfism are born with very low birth weights. (panajijournal.com)
- After birth, growth continues at a much slower rate, leaving individuals with primordial dwarfism perpetually years behind their peers in stature and in weight. (panajijournal.com)
- Primordial Dwarfism Market size is expected to change for 7MM during the forecast period of 2018-30. (panajijournal.com)
- The Primordial Dwarfism market outlook of the report helps to build a detailed comprehension of the historic, current, and forecasted Primordial Dwarfism market trends by analyzing the impact of current Primordial Dwarfism therapies on the market, unmet needs, drivers, and barriers, and demand for better technology. (panajijournal.com)
- The calculated Primordial Dwarfism market data are presented with relevant tables and graphs to give a clear view of the market at first sight. (panajijournal.com)
- According to DelveInsight, the Primordial Dwarfism market in 7MM is expected to witness a major change in the study period 2019-2032. (panajijournal.com)
- Primordial Dwarfism, dressed for Brad's senior prom in 2009. (garyparker.com)
- Young men with Primordial Dwarfism are often quick and strong. (garyparker.com)
- Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) is a genetic condition characterized by small head size, abnormal bone growth and dwarfism (disproportionate short stature). (nih.gov)
Form of dwarfism2
- Observations of mice engineered to carry a mutation that causes a severe form of dwarfism have led to a better understanding of the pathology of the disease and potentially identified a window during which treatment may be most effective. (nih.gov)
- Watson was born with a form of dwarfism known as Chondrodysplasia. (greatergoodnews.com)
- Here we report de novo missense mutations in DNMT3A, encoding the DNA methyltransferase DNMT3A, that cause microcephalic dwarfism, a hypocellular disorder of extreme global growth failure. (ega-archive.org)
- Though there are many different causes of dwarfism, there are two main types of the condition: proportionate and disproportionate. (healthline.com)
- In some cases, the head of a person with disproportionate dwarfism may be slightly larger than that of a person without dwarfism. (healthline.com)
- The dwarfism is not consistent, with some animals appearing proportionate and attractive while others suffer from disproportionate development and look like dwarves. (greatergoodnews.com)
- Note the narrow chest and disproportionate dwarfism. (medscape.com)
- When the head, trunk, and limbs are all proportionate to each other, but much smaller than those of an average-sized person, the condition is known as proportionate dwarfism. (healthline.com)
- As a result, someone born with proportionate dwarfism may be able to reach an average height or get close to it. (healthline.com)
Kind of dwarfism2
- But having a gene or genes responsible for dwarfism can occur in a couple of ways. (healthline.com)
- The NICHD seeks licensing and/or co-development research partners to collaborate on the identification and characterization of GPR101 inhibitors (antagonists and inverse agonists) and agonists with the goal of identifying agents to treat gigantism, acromegaly or dwarfism. (nih.gov)
- Learn the appropriate way to refer to someone who has been medically diagnosed with dwarfism, and how you can foster a workplace that is safe and inclusive for all people. (thediversitymovement.com)
- Achondroplasia is the most common type of dwarfism. (medlineplus.gov)
- For example, a genetic condition called achondroplasia results in arms and legs that are significantly shorter than those of a person of average size, but the trunk is like that of someone unaffected by dwarfism. (healthline.com)
- In the video, Quaden, who was born with a type of dwarfism known as achondroplasia, is shown sobbing uncontrollably and asking for a knife to kill himself after being bullied at school. (whatsnew2day.com)
- We would love to know what type of dwarfism affects you and what impact it has had on your life. (thenba.ca)
- Pseudoachondroplasia (PSACH) is a disorder of the growth plate that results in dwarfism, limb deformities, joint pain, and early onset osteoarthritis. (nih.gov)
- Other genetic conditions, kidney disease, and problems with metabolism or hormones can also cause dwarfism. (medlineplus.gov)
- Dwarfism is a medical or genetic condition that causes someone to be considerably shorter than an average-sized man or woman. (healthline.com)
- Dwarfism is usually the result of a genetic mutation. (healthline.com)
- With proper medical care, most people with dwarfism have active lives and live as long as other people. (medlineplus.gov)
- One of the largest advocacy groups for people with dwarfism is the Little People of America (LPA) . (healthline.com)
- People with dwarfism are often misrepresented in media and popular culture. (rgauk.org)
- Consistently measuring in the lowest quartiles on the standard growth chart is another sign a pediatrician can use to diagnose dwarfism. (healthline.com)
- Many types of dwarfism cause serious symptoms that can sometimes be life-threatening. (thenba.ca)
- The result is typically proportional dwarfism. (healthline.com)
- At birth, sometimes the appearance of a newborn may be enough to make a diagnosis of dwarfism. (healthline.com)
- 2018) reported that 'Homozygotes for those variants and compound heterozygotes for any combination of those variants always expressed a dwarfism phenotype. (omia.org)
- However, eight additional horses with dwarfism were found, seven of which were heterozygotes for D2, D3* or D4 [and the other dwarf did not possess any of these variants], suggesting the existence of additional ACAN alleles causing dwarfism. (omia.org)
- The average height of an adult with dwarfism is 4 feet, but dwarfism could apply to an adult who is 4'10" or shorter. (healthline.com)
- That's why we started our Role Models in the Dwarfism Community serie s - to showcase figureheads in our own communities. (rgauk.org)
- Quaden Bayles, the indigenous boy with dwarfism whose battle against bullying shocked the world, has revealed that he has completed filming for his role in the latest installment of the Mad Max film franchise and has two special projects in the works. (whatsnew2day.com)
- Quaden also took the opportunity to thank his followers who helped him rise to stardom after his mother shared a video of him crying uncontrollably after being teased about his dwarfism at school. (whatsnew2day.com)