Term ID: | 17041 |
Name: | 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. |
Alternative IDs: | |
ParentIDs: | |
TreeNumbers: | |
Synonyms: | Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome |
Slim Mappings: | |
Reference: |
MedGen:
MeSH:
OMIM: MSeqDR : Genes: |
Phenotypes | |
Disease Causing ClinVar Variants | |
MSeqDR Portal | |