Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Synonyms: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome | Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome | Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome?
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