Oculootofacial Dysplasia

Background and History: 

Gene mutations are responsible for numerous malformation syndromes which involve various tissues and organs.  The condition described here is somewhat unusual because of the unique facial features and other organs that are malformed in the absence of developmental delays or neurological defects.

Clinical Correlations: 

The facial features include large and prominent ears, large nose, a short lower jaw (micrognathia), narrow eye openings, and often a defect in the lower eyelids known as a coloboma.  There may be a small skin tag just in front of the ears.  The distance between the upper lip and the nose can be short.  Cleft lip and/or palate are often present.  Hearing loss is common.

The heart often has a hole in the interior chamber walls (septal defects) and kidney malformations have been reported.  The anal opening may not be present.


This condition seems to require that both copies of a specific gene have lost their function and creates a transmission pattern known as autosomal recessive.  The parents who carry a single mutated copy of the gene are clinically normal but when both contribute the mutation to their children, they have a 25% chance for each child to inherit this disorder.

Diagnosis and Prognosis: 

It is likely that oculootofacial dysplasia will be diagnosed in the neonatal period by pediatricians and geneticists with the help of an eye doctor.  A thorough investigation is necessary since the internal organ involvement is usually not immediately apparent.  Individual malformations may be surgically correctable and usually do not require urgent attention.  It is unlikely that longevity is impacted.

Additional Information
Autosomal recessive