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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-05-2012
Symbol ACDS1
Location 1p13.3
Name auriculo-condylar syndrome 1
Corresponding gene GNAI3
Other symbol(s) ARCND1
Main clinical features
  • disorder of first and second pharyngeal arches, characterized by malformed ears ('question mark ears'), prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle hypoplasia
  • normal hearing and normal ossicles of the middle ear
  • Genetic determination autosomal dominant
    Function/system disorder
    Type disease