Synonym: cardiofacial syndrome, Cayler Syndrome
Clinical features:
(1) The infant's lower face is asymmetric, especially when the patient cries. When crying the lower lip is pulled downward to one side (the side with normal muscular activity).
(2) The condition occurs when there is unilateral weakness of one or more lower facial muscles. This may be associated with unilateral hypoplasia of the anguli oris depressor and/or depressor labii inferioris muscles.
(3) The patient may have underlying malformations.
(3a) cardiac malformations: ventricular septal defect (VSD), pulmonary valvular dysplasia or stenosis, ostium secundum atrial septal defect with pulmonary hypertension, tetralogy of Fallot, coarctation, right aortic arch, tricuspid atresia, hypoplastic right ventricle, plus others.
(3b) cervicofacial malformations (anotia, hypoparathyroidism, others)
(3c) genitourinary malformations
(3d) gastrointestinal malformations
(3e) skeletal malformations
About 5-10% of infants with congenital cardiac malformations are reported to show ACF.
Occurrence:
(1) familial hypoplasia of facial muscles
(2) 22q11 deletion, including the CATCH22 phenotype
(3) EYA1 mutation
(4) other mutations
Differential diagnosis: facial nerve (CN 7) palsy (exclude with electrophysiologic testing)
