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Results 71 - 80 of 129 for Skeletal dysplasia
  1. Multiple epiphyseal dysplasia 
    ... formation of abnormal cartilage, which can cause the skeletal problems characteristic of dominant multiple epiphyseal dysplasia.The COL9A1, COL9A2, and COL9A3 genes provide instructions ...
    https://medlineplus.gov/.../condition/multiple-epiphyseal-dysplasia - Genetics
  2. Schimke immuno-osseous dysplasia 
    ... is typically between 3 and 5 feet. Additional skeletal problems in people with Schimke immuno-osseous dysplasia include abnormalities of the hip joints and the ...
    https://medlineplus.gov/.../schimke-immuno-osseous-dysplasia - Genetics
  3. FLNA gene 
    ... dysplasia, and Melnick-Needles syndrome (described below). Frontometaphyseal dysplasia involves abnormalities in skeletal development, particularly involving the joints, and other health ...
    https://medlineplus.gov/genetics/gene/flna - Genetics
  4. RMRP gene 
    ... characterized by severe short stature (dwarfism) and other skeletal abnormalities. The RMRP gene mutations that cause anauxetic dysplasia alter the noncoding RNA produced from the gene, ...
    https://medlineplus.gov/genetics/gene/rmrp - Genetics
  5. Léri-Weill dyschondrosteosis 
    ... X chromosome or the Y chromosome.A related skeletal disorder called Langer mesomelic dysplasia occurs when both copies of the SHOX gene ...
    https://medlineplus.gov/.../condition/leri-weill-dyschondrosteosis - Genetics
  6. Otospondylomegaepiphyseal dysplasia 
    Otospondylomegaepiphyseal dysplasia (OSMED) is a condition characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. The term "otospondylomegaepiphyseal" refers to the parts of the ...
    https://medlineplus.gov/.../otospondylomegaepiphyseal-dysplasia - Genetics
  7. Langer mesomelic dysplasia 
    ... bone development and growth, which underlies the severe skeletal abnormalities associated with Langer mesomelic dysplasia. SHOX Langer mesomelic dysplasia has a pseudoautosomal recessive ...
    https://medlineplus.gov/.../condition/langer-mesomelic-dysplasia - Genetics
  8. Cerebro-facio-thoracic dysplasia 
    ... show signs and symptoms of the condition. Cerebrofaciothoracic dysplasia CFSMR CFTD Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome Pascual-Castroviejo syndrome ...
    https://medlineplus.gov/.../cerebro-facio-thoracic-dysplasia - Genetics
  9. Kniest dysplasia 
    ... growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing.People with Kniest dysplasia are born with a short trunk and shortened ...
    https://medlineplus.gov/genetics/condition/kniest-dysplasia - Genetics
  10. ANO5 gene 
    ... leads to fragile bones, jaw problems, and other skeletal abnormalities. The ANO5 gene mutations that cause gnathodiaphyseal dysplasia change single protein building blocks (amino acids) in ...
    https://medlineplus.gov/genetics/gene/ano5 - Genetics
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