MeSH Browser

MeSH Supplementary: Spondyloepiphyseal dysplasia, congenita
Unique ID: C535788
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535788
Entry Term(s): SED Congenita; Sed, Congenital Type; Spondyloepiphyseal Dysplasia Congenita; Spondyloepiphyseal dysplasia, congenital type
Registry Numbers: 0
Heading Mapped to: Osteochondrodysplasias / congenital
Frequency: 49
Note: 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 of Entry: 2010/08/25
Revision Date: 2015/09/27

Spondyloepiphyseal dysplasia, congenita MeSH Supplementary Concept Data 2025