Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Definition
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome is characterized by 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.
Also known as Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome — per MONDO