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Oculoosteocutaneous syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: ANODONTIA-HYPOTRICHOSIS SYNDROME; Brachymetapody-anodontia-hypotrichosis-albinoidism
SNOMED CT: Oculoosteocutaneous syndrome (722061006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0008884
OMIM®: 211370
Orphanet: ORPHA2713


This syndrome has characteristics of congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculoosteocutaneous syndrome
Follow this link to review classifications for Oculoosteocutaneous syndrome in Orphanet.

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