(Question mark ears syndrome)

Very rare. Anomalies of development of the two first pharyngeal arches.

Genetic origin is heterogeneous.

-        type 1 [MIM 602 483]: mutation of the GNAI3 gene (1p13.3)

-        type 2 [MIM 614 669]: mutation in the ARCND3 gene (20p12.3 - p12.2)

-        type 3 [MIM 615 706]: mutation of the EDN1 gene (homozygous form) (6p24), but the deformation of the ears is isolated in case of heterozygous form [MIM 612 798].

Association of a bilateral malformation of the outer ear (question mark ears), mandibular condylar hypoplasia, microstomia, micrognathia, microglossia and facial asymmetry.

Also: hypotonia, ptosis, cleft palate, puffy cheeks, developmental retardation, deafness and respiratory difficulties.

Anesthetic implications:

difficult mask ventilation and intubation

References :

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Updated: April 2018