QUESTION MARK EARS, ISOLATED

General Information (adopted from Orphanet):

Synonyms, Signs: EARS, PROMINENT AND CONSTRICTED
AURICULAR CLEFT, CONGENITAL
COSMAN DEFORMITY OF THE AURICLE
Number of Symptoms 7
OrphanetNr:
OMIM Id: 612798
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(OMIM) Normal hearing 9 / 7739
2
(OMIM) Disjunction of otherwise normal lobule from remainder of ear 1 / 7739
3
(OMIM) Prominence and protrusion of upper third of the ear 1 / 7739
4
(OMIM) Absence of the helix and distal scapha in middle third of the ear 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(HPO:0030022) Question mark ear 2 / 7739
7
(OMIM) Shallow skin dimple on posterior surface of ear 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Cosman et al. (1970) described 2 unrelated patients with question mark ears. The first was a 38-year-old Puerto Rican man who had a unilateral deformity of the left ear, with prominence and protrusion of the upper third of ...