Unilateral asymmetry of the face during crying,
because of predominantly left-sided defects of the depressor anguli oris.
Associated anomalies involve the head (mental retardation, microcephaly,
cerebral cortical atrophy, prominent ears, micrognathia, retrognathia, cleft
palate, anodontia), the heart (atrial septal defects, ventricular septal
defects, conotruncal anomalies, and tetralogy of Fallot), and the viscera (respiratory distress,
diaphragmatic hernia, polycystic kidneys, hydronephrosis, hypoplasia of
kidneys, ectopic testes). Short stature has been described.
Hypoparathyroidism and hypocalcemia have been reported in at
least one patient.