Barber-Say Syndrome

Background and History: 

This is a generalized hereditary condition with multiple congenital anomalies. 

Clinical Correlations: 

The skin at birth is loose and often redundant.  The eyelids share in this and as a result in some individuals the lower eyelids are turned outward (ectropion).  The eyebrows and sometimes the eyelashes are sparse.  In other cases the lids are incompletely formed.  The eyes may appear prominent and abnormally far apart.  There is excessive hair most notably on the forehead, the neck, and the back although sometimes the arms and legs are also involved.  The ears are low-set and may be malformed.  Some individuals have hearing loss while the tip of the nose appears bulbous.  The opening of the mouth is large but the lips appear small. The skin over the chest is thin (atrophic) and the nipples are rudimentary.  The penis opening may be abnormally placed.  The hard palate is often highly vaulted and sometimes is clefted while the teeth may be abnormally small and are late to erupt.  Cognitive delays are common and mental retardation has been described in some patients.


This condition is inherited in an autosomal dominant pattern and is usually transmitted from parent to child.  Parents who carry the mutation, however, may have only mild features and detailed examination may be necessary for detection.  Such parents confer a 50% risk for this syndrome to each of their children.

Diagnosis and Prognosis: 

The diagnosis is usually made at birth based on an external examination by a pediatrician, or a dermatologist.  There is no treatment for the generalized disorder but some of the anomalies such as the lid deformities and cleft palate may be surgically correctable.  Little is known regarding the prognosis.

Additional Information
Autosomal dominant