Alternative titles and symbols : Spondyloepiphyseal dysplasia, congenital type; Sed congenita;
Description : Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia 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 (summary by Anderson et al., 1990).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0001);