Orofaciodigital Syndrome IX

Background and History: 

Many inherited disorders cause malformations in multiple systems such as this one that affect skeletal, facial, neurological, and ocular structures.  The clinical features vary widely.

Clinical Correlations: 

Some deformities are obvious at birth.  The digits (fingers and toes) may be partially fused, and shortened. The large toes often appear abnormally broad.  Developmental delays and frank mental retardation are common.  Children are generally short in stature.  The lips may have small clefts and the tongue may be notched or forked to some degree.  Small growths are often present on the tongue and sometimes there is an extra tooth.  The retina of the eye (the light sensing tissue) often has defects suggesting defective formation but the level of vision has not been reported.  Seizures are rare.


From the limited number of patients reported, it seems likely that this is an autosomal recessive condition.  No actual gene change (mutation) has been found but it is likely that two copies of a mutation are required for this condition to occur.  In this case the parents would be normal (as reported) but if each carries one mutated copy, then each of their children would have a 25% risk of inheriting this condition.

Diagnosis and Prognosis: 

This is an extremely rare disorder and little is known about the prognosis.  Affected children require intensive care and monitoring.  The diagnosis requires a team effort of pediatricians, orthopedists, oral surgeons and ophthalmologists.

Additional Information
Autosomal recessive