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
Also Known As:
Spondyloepiphyseal dysplasia, congenita; SED Congenita; Sed, Congenital Type; Spondyloepiphyseal Dysplasia Congenita; Spondyloepiphyseal dysplasia, congenital type