[MIM 113 620]

Rare. Autosomal dominant transmission with variable penetrance of a mutation of the TFAP2A gene (6p24.3) causing malformations in the  structures originating from the embryonic arches. 

Clinical presentation:

-         intrauterine and postnatal growth retardation

-         ocular: micro- or anophthalmia (62 %), often unilateral; hypertelorism, imperforate lacrimal ducts (74 %), coloboma of the iris (45 %), cataract

-         skin abnormalities of the face and neck: branchial fistulas with a hemangiomatous or atrophic aspect looking as a linear burn (typically: behind the ears or at the level of sterno-cleido-mastoid muscle); sometimes ectopic thymus is present in the fistulous tract in the neck; preauricular appendages

-         deformities: cleft lip and/or palate; prominent philtrum edges giving the appearance of an unesthetic scar of a cleft lip (often lateralized 'pseudo-cleft'); broad nose with a flattened tip, anomalies of the external ear (badly shaped, atrophic) and of the middle ear associated to deafness; sometimes micrognathia

-         normal intelligence

and sometimes renal anomalies or agenesis.

Anesthetic implications: 

risk of difficult intubation ; check renal function

References : 

• Raveh E, Papsin BC, Forte V. 
  Branchio-oculo-facial syndrome. 
  Int J Pediatr Otorhinolaryng 2000 ; 53 : 149-56.
• Ozturk O, Tokmak A, Demirci L, Silan F, Guclu E. 
  Branchio-oculo-facial syndrome with the atresia of external ear. 
  Int J Pediatr Otorhinolaryng 2005 ; 69 :1575-8.
• Kulkarni ML, Deshmukh S, Kumar A, Kulkarni PM. 
  Branchio-oculo-facial syndrome. 
  Indian J Pediatr 2005 ; 72 :701-3.

Updated: November 2019