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Macrostomia-preauricular tags-external ophthalmoplegia syndrome

MedGen UID:
1391725
•Concept ID:
C4509840
•
Disease or Syndrome
Synonyms: Macrostomia, preauricular tag, external ophthalmoplegia syndrome; macrostomia-preauricular tags-external ophthalmoplegia syndrome
SNOMED CT: Macrostomia, preauricular tag, external ophthalmoplegia syndrome (723366001)
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:0019387
Orphanet: ORPHA83619

Definition

Syndrome that combines the features of macrostomia or abnormal mouth contour, preauricular tags, uni- or bilateral ptosis and external ophthalmoplegia. It is described in nine members of a Brazilian family. It is a phenotype belonging to the so-called oculoauriculovertebral spectrum, resulting from a branchial arch anomaly. Transmission is autosomal dominant. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMacrostomia-preauricular tags-external ophthalmoplegia syndrome

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