NLM Logo

Spondyloepiphyseal dysplasia, congenita MeSH Supplementary Concept Data 2022


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 Number
0
Heading Mapped to
Osteochondrodysplasias / *congenital
Frequency
45
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 Preferred
page delivered in 0.004s