Spondyloepiphyseal dysplasia congenita (SEDC). Spranger-Wiedemann disease.
Incidence
The prevalence is approximately 1 per 100,000 live births. Males and females are equally affected. SEDC is caused by mutation in the COL2A1 gene (locus 12q13.11-q13.2). The inheritance is autosomal dominant.
Clinical Characteristics
Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies. Clinical manifestations may include short stature with a very short trunk and neck and shortened limbs, clubfoot, coxa vara, cleft palate, flat facial features, hypertelorism, eye abnormalities (nystagmus, congenital cataracts, glaucoma, retinal detachment), decreased hearing, and characteristic radiologic findings (flattened vertebral bodies, flat acetabular roof, delayed ossification of the femoral heads with degenerative changes). Decreased joint mobility and arthritis often develop early in life. Intelligence is usually unaffected early but reported to be affected up to in 75% in older children. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate. Other malformations included hypoplasia of abdominal musculature, abdominal and inguinal hernias, and mental retardation. Detachment of the retina occurs in some patients even without significant myopia.
Precipitants
None
Provocation Tests
None
Diagnostic Procedures
It is a clinical diagnosis.