syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa (aandoening) DEPRECATED | | syndroom van osteochondrodysplastische dwerggroei, doofheid en retinitis pigmentosa | | Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome | | This syndrome has characteristics of severe dwarfism, progressive scoliosis and bilateral dislocation of the hip, associated with sensorineural deafness and retinitis pigmentosa. Radiographs show diffuse osteoporosis, severe bone-age delay and dysplasia of the femoral head. It has been described in two patients. Transmission is autosomal dominant variable penetrance. |
| Id | 722108000 | Status | Primitive |
SNOMED CT to Orphanet simple map | 2653 |
|