osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
Findings
No curated finding names osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0017041), read 2026-09-29. CC BY 4.0.
Where it sits
Other names
1 name
Resolves to: osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
- Also called
- Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome