Alternative titles and symbols : Question mark ears syndrome;
Description : Auriculocondylar syndrome (ARCND) is an autosomal dominant disorder of the first and
second pharyngeal arches and is characterized by malformed ears (question mark ears),
prominent cheeks, microstomia, abnormal temporomandibular joint, and mandibular condyle
hypoplasia (summary by Masotti et al., 2008). - Genetic Heterogeneity of Auriculocondylar
Syndrome Auriculocondylar syndrome-2 (ARCND2; 614669) is caused by mutation in the
PLCB4 gene (600810) on chromosome 20p12.3-p12.2. See also 612798 for isolated question
mark ears.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the guanine nucleotide-binding protein (G-protein), alpha-inhibiting
activity polypeptide-3 gene (GNAI3, 139370.0001]);