Auriculo-condylar syndrome
An autosomal dominant disorder that affects morphogenesis of the BRANCHIAL REGION of the embryo, specifically the first and second pharyngeal arches. It is characterized by malformed ears (question mark ears), prominent cheeks,MICROSTOMIA, abnormal TEMPOROMANDIBULAR JOINT, and MANDIBULAR CONDYLE hypoplasia. Mutations in the GNAI3 gene have been identified. OMIM: 602483
Also Known As:
ARCND1; Auriculocondylar syndrome; Auriculocondylar syndrome 1; Cosman ear; Ears prominent and constricted; Question Mark Ears Syndrome; Question mark ear; Question-Mark Ear Syndrome
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