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Results 1 - 10 of 72 for Short stature
  1. SHOX gene 
    ... before birth. The resulting skeletal abnormalities include very short stature, extreme shortening of the long bones in the ... shortage of this protein likely contributes to the short stature and skeletal abnormalities (such as unusual rotation of ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  2. GHR gene 
    ... to cause Laron syndrome, a rare form of short stature that is also characterized by obesity, a distinctive ... disrupts the normal growth of many different tissues. Short stature results when growth hormone cannot adequately stimulate the ...
    https://medlineplus.gov/genetics/gene/ghr - Genetics
  3. ACAN gene 
    ... elbows, hips, or ankles. Other common features are short stature and early development of a painful joint disorder ... in growing bones impairs their growth, leading to short stature. More About This Health Condition MedlinePlus Genetics provides ...
    https://medlineplus.gov/genetics/gene/acan - Genetics
  4. RMRP gene 
    ... with anauxetic dysplasia, a disorder characterized by severe short stature (dwarfism) and other skeletal abnormalities. The RMRP gene ... dysplasia without hypotrichosis. This condition is characterized by short stature and skeletal abnormalities that are usually less severe ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  5. CUL7 gene 
    ... syndrome, a disorder that causes skeletal anomalies including short stature (dwarfism) and unusual facial features. Most of these ... the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol (Oxf). 2012 ...
    https://medlineplus.gov/genetics/gene/cul7 - Genetics
  6. BTK gene 
    ... type III, a condition characterized by slow growth, short stature, and a weakened immune system. Mutations that cause ... but how a shortage of BTK protein causes short stature in affected individuals is unclear. More About This ...
    https://medlineplus.gov/genetics/gene/btk - Genetics
  7. COL2A1 gene 
    ... dysplasia, a disorder of bone growth characterized by short stature (dwarfism), other skeletal abnormalities, and problems with vision ... of bone growth is characterized by platyspondyly, brachydactyly, short stature, and other skeletal abnormalities. The COL2A1 gene variants ...
    https://medlineplus.gov/genetics/gene/col2a1 - Genetics
  8. TRPV4 gene 
    ... with metatropic dysplasia, a skeletal disorder characterized by short stature (dwarfism) with other skeletal abnormalities. Most of these ... parastremmatic dysplasia. These related conditions involve combinations of short stature, abnormal side-to-side and back-to-front ...
    https://medlineplus.gov/genetics/gene/trpv4 - Genetics
  9. FBN1 gene 
    ... acromicric dysplasia. This condition is characterized by severely short stature, short limbs, stiff joints, and distinctive facial features. ... gene mutations that cause acromicric dysplasia lead to short stature, while certain other FBN1 gene mutations that also ...
    https://medlineplus.gov/genetics/gene/fbn1 - Genetics
  10. OBSL1 gene 
    ... syndrome, a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. Most of these ... the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. Clin Endocrinol (Oxf). 2012 ...
    https://medlineplus.gov/genetics/gene/obsl1 - Genetics
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