Description of the disease * EnglishPolish Pobierz sekcję do PDF 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. Disease data Classification Malformation syndrome Synonyms Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome Karłowatość osteochondrodysplastyczna - głuchota - zwyrodnienie barwnikowe siatkówki Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome ORPHA code 2653 OMIM code - ICD10 code Q87.1 ICD11 code LD2H.Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl