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Results 1 - 10 of 35 for Abnormality of skeletal maturation
  1. Alagille Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Congenital Heart Defects/Genetics ... Congenital Heart Defects ... Bile Duct Diseases/Genetics ... Bile Duct Diseases ... Genetic and Rare Diseases Information Center ... From ...
    https://rarediseases.info.nih.gov/diseases/804/alagille-syndrome - External Health Links
  2. Kearns-Sayre Syndrome From the National Institutes of Health (National Center for Advancing Translational Sciences)  
    Neuromuscular Disorders/Specifics ... Neuromuscular Disorders ... Eye Diseases/Specifics ... Eye Diseases ... National Center for Advancing Translational Sciences ... From the ...
    https://rarediseases.info.nih.gov/.../6817/kearns-sayre-syndrome - External Health Links
  3. Williams Syndrome From the National Institutes of Health (Genetic and Rare Diseases Information Center)  
    Genetic Disorders/Specifics ... Genetic Disorders ... Developmental Disabilities/Specifics ... Developmental Disabilities ... Genetic and Rare Diseases Information Center ...
    https://rarediseases.info.nih.gov/diseases/7891/williams-syndrome - External Health Links
  4. RUNX2 gene 
    ... upper jawbone (maxilla), and short fingers (brachydactyly). Other skeletal ... with the maturation of cells that build bones (osteoblasts). However, the ...
    https://medlineplus.gov/genetics/gene/runx2 - Genetics
  5. Fibrodysplasia ossificans progressiva 
    ... cartilage by bone (ossification) that occurs in normal skeletal maturation from birth to young adulthood.Studies show that ...
    https://medlineplus.gov/.../fibrodysplasia-ossificans-progressiva - Genetics
  6. ACVR1 gene 
    ... by bone (ossification). This process occurs in normal skeletal maturation from birth to young adulthood.The ACVR1 protein ... that can be more severe and often involve skeletal abnormalities, such as multiple abnormally formed fingers and toes. ...
    https://medlineplus.gov/genetics/gene/acvr1 - Genetics
  7. SHOX gene 
    ... development and growth starting before birth. The resulting skeletal abnormalities include very short stature, extreme shortening of the ... development and growth starting before birth. The resulting skeletal abnormalities are similar to those of Langer mesomelic dysplasia ( ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  8. Asphyxiating thoracic dystrophy 
    ... stature, and extra fingers and toes (polydactyly). Additional skeletal abnormalities can include unusually shaped collarbones (clavicles) and pelvic ... asphyxiating thoracic dystrophy are born with less severe skeletal abnormalities and have only mild breathing difficulties, such as ...
    https://medlineplus.gov/.../asphyxiating-thoracic-dystrophy - Genetics
  9. MBD5-associated neurodevelopmental disorder 
    ... full lower lip. Some affected individuals have mild skeletal abnormalities including small hands and feet, short fingers (brachydactyly), ... same signs and symptoms. The cause of the skeletal abnormalities and other non-neurological features of MAND is ...
    https://medlineplus.gov/...d5-associated-neurodevelopmental-disorder - Genetics
  10. Autosomal dominant hyper-IgE syndrome 
    ... and teeth. Many people with AD-HIES have skeletal abnormalities such as an unusually large range of joint ... explain why STAT3 gene mutations lead to the skeletal and dental abnormalities characteristic of this condition. It is unclear how ...
    https://medlineplus.gov/.../autosomal-dominant-hyper-ige-syndrome - Genetics
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