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Results 81 - 90 of 129 for Skeletal dysplasia
  1. Spondyloepiphyseal dysplasia with metatarsal shortening 
    ... Kuklik M, Kozlowski K. Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes. Skeletal Radiol. 2004 Mar;33(3):157-64. doi: ...
    https://medlineplus.gov/...seal-dysplasia-with-metatarsal-shortening - Genetics
  2. DLL3 gene 
    ... DB, Sa X, Conlon RA, Beddington RS. Axial skeletal defects caused by mutation in the spondylocostal dysplasia/pudgy gene Dll3 are associated with disruption of ...
    https://medlineplus.gov/genetics/gene/dll3 - Genetics
  3. Spondyloepiphyseal dysplasia congenita 
    ... have been reported in the scientific literature. Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. ...
    https://medlineplus.gov/.../spondyloepiphyseal-dysplasia-congenita - Genetics
  4. SOST-related sclerosing bone dysplasia 
    ... features. In people with van Buchem disease, the skeletal features typically appear in childhood or adolescence. SOST-related sclerosing bone dysplasia is a rare condition; its exact prevalence is ...
    https://medlineplus.gov/.../sost-related-sclerosing-bone-dysplasia - Genetics
  5. SHOX gene 
    ... development and growth starting before birth. The resulting skeletal abnormalities are similar to those of Langer mesomelic dysplasia (described above), although they tend to be less ...
    https://medlineplus.gov/genetics/gene/shox - Genetics
  6. Acromicric dysplasia 
    ... fingers. A misalignment of the hip joints (hip dysplasia) can also occur in this disorder. These skeletal and joint problems may require treatment, but most ...
    https://medlineplus.gov/genetics/condition/acromicric-dysplasia - Genetics
  7. SMARCAL1 gene 
    ... the buildup of DNA damage lead to the skeletal, immune system, and other problems in people with Schimke immuno-osseous dysplasia. More About This Health Condition HARP HepA-related ...
    https://medlineplus.gov/genetics/gene/smarcal1 - Genetics
  8. Microcephalic osteodysplastic primordial dwarfism type II 
    ... ranges from 20 inches to 40 inches. Other skeletal abnormalities in MOPDII include abnormal development of the hip joints (hip dysplasia), thinning of the bones in the arms and ...
    https://medlineplus.gov/...teodysplastic-primordial-dwarfism-type-ii - Genetics
  9. What's New on MedlinePlus 
    ... to MedlinePlus Genetics: Terminal osseous dysplasia Terminal osseous dysplasia is a disorder primarily involving skeletal abnormalities and certain skin changes. Explore symptoms, inheritance, ...
    https://medlineplus.gov/whatsnew -
  10. COL11A2 gene 
    ... COL11A2 gene have been found to cause otospondylomegaepiphyseal dysplasia (OSMED), a disorder characterized by skeletal abnormalities, distinctive facial features, and severe hearing loss. ...
    https://medlineplus.gov/genetics/gene/col11a2 - Genetics
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