Definition

Question mark ears (QME) 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). [from OMIM]

Clinical features

From HPO

Question mark ear

MedGen UID:: 854772
•Concept ID:: C3888103
•: Finding

Cleft between the helix and the lobe.

See: Feature record | Search on this feature

Hearing abnormality

MedGen UID:: 871365
•Concept ID:: C4025860
•: Finding

An abnormality of the sensory perception of sound.

See: Feature record | Search on this feature

Ear malformation
- Hearing abnormality
- Question mark ear

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAuriculocondylar syndrome
- CROGVAuriculocondylar syndrome 1
- CROGVAuriculocondylar syndrome 2
- CROGVAuriculocondylar syndrome 3
- CROGVQuestion mark ears, isolated

Branchial arch or oral-acral syndrome
- Auriculocondylar syndrome
  - Question mark ears, isolated

Recent clinical studies

Diagnosis

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J
Am J Hum Genet 2013 Dec 5;93(6):1118-25. Epub 2013 Nov 21 doi: 10.1016/j.ajhg.2013.10.023. PMID: 24268655 Free PMC Article

Novel features in auriculo-condylar syndrome.

McGowan R, Murday V, Kinning E, Garcia S, Koppel D, Whiteford M
Clin Dysmorphol 2011 Jan;20(1):1-10. doi: 10.1097/MCD.0b013e32833e56f5. PMID: 20733479

See all (2)

Prognosis

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J
Am J Hum Genet 2013 Dec 5;93(6):1118-25. Epub 2013 Nov 21 doi: 10.1016/j.ajhg.2013.10.023. PMID: 24268655 Free PMC Article

See all (1)

Clinical prediction guides

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.

Gordon CT, Petit F, Kroisel PM, Jakobsen L, Zechi-Ceide RM, Oufadem M, Bole-Feysot C, Pruvost S, Masson C, Tores F, Hieu T, Nitschké P, Lindholm P, Pellerin P, Guion-Almeida ML, Kokitsu-Nakata NM, Vendramini-Pittoli S, Munnich A, Lyonnet S, Holder-Espinasse M, Amiel J
Am J Hum Genet 2013 Dec 5;93(6):1118-25. Epub 2013 Nov 21 doi: 10.1016/j.ajhg.2013.10.023. PMID: 24268655 Free PMC Article

See all (1)

Synonyms:	EARS, PROMINENT AND CONSTRICTED; QME

Gene (location): Gene(s) directly associated with this condition or phenotype.	EDN1 (6p24.1)

Monarch Initiative:	MONDO:0013013
OMIM®:	612798

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Question mark ears, isolated(QME)

Definition

Clinical features

Term Hierarchy

Recent clinical studies

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

Consumer resources

Reviews

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