Oculoosteocutaneous syndrome

MedGen UID:: 347867
•Concept ID:: C1859385
•: Disease or Syndrome

Synonyms:	ANODONTIA-HYPOTRICHOSIS SYNDROME; Brachymetapody-anodontia-hypotrichosis-albinoidism
SNOMED CT:	Oculoosteocutaneous syndrome (722061006)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • 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). Autosomal recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0008884
OMIM®:	211370
Orphanet:	ORPHA2713

Definition

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

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVOculoosteocutaneous syndrome

Phenotypic abnormality
- Abnormality of the integument
  - Abnormality of the skin
    - Ectodermal dysplasia
      - Oculoosteocutaneous syndrome

Follow this link to review classifications for Oculoosteocutaneous syndrome in Orphanet.

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Oculoosteocutaneous syndrome

Definition

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