Branchiooculofacial Syndrome

Background and History: 

This is a malformation syndrome in which there is incomplete formation or malformation of the eyes and the face.  Dental, visual, and hearing problems are often present for which surgery is sometimes helpful.     

Clinical Correlations: 

The eyes are often small and sometimes absent.  There may be incomplete formation of the eye leading to defects (colobomas) in certain structures (iris and even the optic nerve).  Cataracts are present in about 25% of individuals.  Vision is highly variable depending upon the extent of eye involvement but can be normal.  The lid openings often slant upward.  The ducts that drain excess tears may not be completely formed and sometimes open to the side of the nose instead of inside the eye.

There is often a cleft lip and/or palate.  The appearance of the nose is variable but usually the tip and the bridge are broad.  The ears may be enlarged and mildly malformed.  Some degree of hearing loss is common.  The teeth are underdeveloped and often some are missing.  Premature graying (by the age of 18 years) is often seen.  The kidneys may have some mild malformations.  Mental function is usually normal.


The inheritance pattern follows an autosomal dominant pattern.  That is, it follows a vertical pattern in which the disorder can be passed from parent to child with a 50% probability.  However, half of the patients with this disorder seem to have acquired a new mutation and lack a family history.  Affected parents can expect that half of their children will inherit the branchiooculofacial syndrome.

Diagnosis and Prognosis: 

The diagnosis may be made by a pediatrician but often a multidisciplinary team is required.  Certainly the management and treatment requires multiple specialists such as ophthalmologists, plastic surgeons, ear, nose and throat specialists.  Speech, hearing, and learning specialists can provide important therapy.  Longevity is normal and many patients can live a virtually normal life.

Additional Information
Autosomal dominant