Blepharocheilodontic Syndrome 2

Background and History: 

This is an inherited condition with primary manifestations in the eyelids, teeth, and face.

Clinical Correlations: 

The eyelids appear too large and there is usually excess skin.  The normally single row of eyelashes is duplicated.  The eyes appear far apart, the forehead is high, and the hairline seems located too far back.

There is often a cleft lip and palate.  The teeth are conically-shaped and some may be missing.


This is an autosomal dominant disorder in which the parents can transmit it with a 50% probability.

Diagnosis and Prognosis: 

The physical features may allow for diagnosis at birth.  Pediatricians and ophthalmologists will likely collaborate on the diagnosis and care.  There is no treatment for the overall condition but the cleft lip and palate can be surgically repaired.  Dental evaluations are recommended.

Additional Information
Autosomal dominant