Microphthalmia with Limb Anomalies

Background and History: 

The size of the eyeball is variable to some extent in everyone but in rare syndromes may be extremely small.  In this syndrome, it may be completely absent.  In the disorder described here other abnormalities, especially in the skeletal system, are also present.  It was first reported by Petrus Johannes Waardenburg, a Dutch ophthalmologist and geneticist.   

Clinical Correlations: 

Most individuals with this disorder are developmentally slow and fail to thrive normally.  Some have mild mental retardation.  One or both eyes are either small or missing as are the nerve connections.  The eyelashes are sparse and the lateral eyebrows are said to be ‘broad’.  The eyelid openings are often narrow.

The midface often appears flat and there may be a high palate.  Most characteristic are various anomalies of the fingers and toes which may be deformed, shortened, and fused.  Sometimes one or more fingers or toes are missing and more rarely there are extra digits.  A split hand, otherwise known as a lobster-claw deformity is common.  The long bones, particularly in the legs, may be thin.  Malformed vertebrae can result in scoliosis.  Rare anomalies of the kidneys and the venous circulation have been reported. 


A gene mutation is responsible for this condition.  Both genes of the pair must be mutated in order to cause the disorder with one coming from each parent who is clinically normal.  Such carrier parents can expect that on average one of four of their children will inherit it.

Diagnosis and Prognosis: 

The diagnosis is made by ophthalmologists in cooperation with a geneticist and/or a pediatrician.  Most individuals are blind or have severe visual impairment.  There is no treatment for the eye condition but the hand and foot deformities might benefit from orthopedic surgery.

Additional Information
Autosomal recessive