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Spondyloepiphyseal dysplasia, congenita [Supplementary Concept]

An autosomal dominant osteochondrodysplasia characterized by disproportionate short stature (short trunk), abnormal EPIPHYSES, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include MYOPIA and/or RETINAL DEGENERATION with RETINAL DETACHMENT and CLEFT PALATE. Mutations in the COL2A1 gene have been identified. OMIM: 183900

Date introduced: August 25, 2010

MeSH Unique ID: C535788

Heading Mapped to:

Entry Terms:

  • Sed, Congenital Type
  • SED Congenita
  • Spondyloepiphyseal dysplasia, congenital type
  • Spondyloepiphyseal Dysplasia Congenita

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