Fraser Syndrome 3

Background and History: 

This is a severe inherited malformation syndrome involving the eyes, ears, face, digits (fingers and toes), lungs, and the urinary tract.

Clinical Correlations: 

Two unrelated male fetuses have been reported.  The upper and lower eyelids are fused and the eyeballs when present are abnormal.  The ears are low-set and have a simple morphology while the anterior hairline is abnormally low.  The jaw is small, the nose is beaked, and the larynx may be malformed and small.  The lungs are malformed as well.  The fingers and toes are incompletely separated with persistent skin between them.  The bladder is small and no kidneys are formed.  The external genitalia can appear normal.


Fraser syndrome 3 is presumably inherited as an autosomal recessive condition that results from mutations in both members of a specific pair of genes.  The clinically normal parents each have a single copy of the mutation and two such parents confer a 25% risk to each of their offspring to have this disorder.

Diagnosis and Prognosis: 

The fusion of the eyelids at birth provide a clue to this condition and the combination of other malformations may be unique to this disorder.  Ophthalmologists and pediatricians along with other specialists are likely to collaborate in the diagnosis and evaluation.  Prenatal ultrasound can provide clues to the presence of this disorder. 

No treatment has been reported.  No reported infants have survived.

Additional Information
Autosomal recessive