Fraser Syndrome 1

Background and History: 

This is a rare and severe multisystem disorder affecting many parts of the body.

Clinical Correlations: 

The major characteristics of Fraser syndrome are fused eyelids (cryptophthalmos), fused digits, abnormalities of the reproductive organs and genitalia, and of the urinary system.  The external genitalia may be ambiguous and the kidneys may be absent.  The eyelids cannot be opened and the tear drainage system can be absent.  The nasal openings and the ear canals are abnormally formed.  Deafness may also be a feature.

Some infants are stillborn and many do not live beyond the neonatal period due to the extensive deformities.


These infants are often born to related parents.  This plus the horizontal family pattern with multiple infants with this condition are evidence of an autosomal recessive disorder.  Those with this condition have two mutations in a specific gene while the clinically normal parents are carriers with only one copy of the mutations.  Two such parents who each have a single mutation confer a 25% risk to each of their offspring to inherit this condition.

Diagnosis and Prognosis: 

This disorder can be diagnosed by a multidisciplinary team of pediatricians, ophthalmologists, and urologists.  The prognosis is poor with few surviving beyond the neonatal period.  No treatment is available.

Additional Information
Autosomal recessive