Fraser Syndrome 2

Background and History: 

This is a rare hereditary disorder that primarily involves the eyes, the eyelids, the reproductive system, and the urinary tract.

Clinical Correlations: 

The eyelids are fused and often cannot be opened.  The eyeball behind the lids may be severely malformed and often nonfunctional.  The nose is often malformed or underdeveloped.  The digits (fingers and toes) may not be completely separated with persistent webbing of the skin between them.  A variety of genitourinary anomalies have been described such as an absent bladder, malformed or absent kidneys, pulmonary dysfunction, and ambiguous genitalia, both internal and external.


This is an autosomal recessive condition caused by mutations in both members of a specific gene.  Parents, who are clinically normal, may carry a single mutation in one member of the pair but each offspring of two such parents has a 25% risk of Fraser syndrome 2.

Diagnosis and Prognosis: 

The presence of fused eyelids (in one or both eyes) at birth is an important sign and the presence of other malformations described here can be diagnostic.  DNA testing is useful to distinguish this disorder from similar ones.  Pediatricians and ophthalmologists are likely to collaborate on this condition.

Only a few families have been reported in the medical literature.  Depending upon the severity of the malformations some infants may not survive beyond the newborn period.

Additional Information
Autosomal recessive