Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

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 June 2024

Newly diagnosed with
Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.