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Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

MedGen UID:
928494
•Concept ID:
C4302825
•
Disease or Syndrome
Synonyms: Osteochondrodysplatic dwarfism-deafness-retinitis pigmentosa syndrome; Osteochondrodysplatic dwarfism-hearing loss-retinitis pigmentosa syndrome; Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome; osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome; Osteochondrodysplatic nanism-hearing loss-retinitis pigmentosa syndrome
SNOMED CT: Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome (722108000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017041
Orphanet: ORPHA2653

Definition

This syndrome has characteristics of 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. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOsteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome

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