Question mark ears, isolated

Preferred Label : Question mark ears, isolated;

Symbol : QME;

CISMeF acronym : QME;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Auricular cleft, congenital; Ears, prominent and constricted; Cosman deformity of the auricle;

Description : Question mark ear is an auricular abnormality characterized by a cleft between the lobule and the lower part of the helix, sometimes accompanied by a prominent or deficient upper part of the helix, shallow skin dimple on the posterior surface of the ear, or transposition of the ear lobe/antitragus. It is more prevalent among boys than girls (2:1), usually sporadic, and can be unilateral or bilateral (Shkalim et al., 2008).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the endothelin 1 gene (EDN1, 131240.0004);

Prefixed ID : #612798;

Details

Origin ID

612798;

UMLS CUI

C2748545;

Automatic exact mappings (from CISMeF team)
- EDN1 wt Allele [NCIt concept]
Genes related to phenotype
- Endothelin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Question mark ear [HPO term]
Not associated HPO term(s)
- Hearing abnormality [HPO term]
ORDO concept(s)
- Auriculocondylar syndrome [ORDO Disease]
See also inter- (CISMeF)
- Auriculo-condylar syndrome [MeSH concept]
- auriculo-condylar syndrome [MeSH Supplementary Concept]
- auriculocondylar syndrome [Disease (Nov.)]
Semantic type(s)
- Anatomical Abnormality [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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