Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
About fifty cases have been reported so far.
Other reported malformations include pseudocleft of the upper lip (resembling a surgically repaired cleft or a fused cleft), malformed ears, conduction or sensorineural deafness, pre-auricular pits, lip pits, highly arched palate, dental anomalies, ocular anomalies (coloboma, microphthalmia), and subcutaneous cysts of the scalp. Premature greying of the hair occurs in affected adults. One patient had, in addition to the typical features of BOFS, partial agenesis of the cerebellar vermis, while two sibs with this syndrome also had orbital hemangiomatous cysts. Urologic examination may reveal kidney abnormalities (agenesis, cysts, hydronephrosis). Preaxial polydactyly and white forelock were described in two cases of BOFS. Intelligence is normal, but speech is hypernasal. Growth continues after birth, but stays between the third and fifth percentile. Postauricular cervical branchial defects are among the most constant features of the syndrome, and pathological findings of the excised branchial defects showed thymic remnants in several cases.
BOFS is caused by mutations involving the gene TFAP2A (transcription factor AP-2 alpha; 6p24).
Diagnosis is clinical and may be confirmed by DNA analysis.
BOFS should be differentiated from the branchio-oto-renal syndrome (BOR syndrome; see this term).
Although some cases are sporadic, most of the reported cases were familial. The mode of transmission is autosomal dominant.
Management is symptomatic and includes combined treatments for hearing impairment and for skin lesions.
Prognosis is function of the severity of associated manifestations.
Last update: January 2009