Neuhauser Syndrome

Background and History: 

This is one of a large number of eye malformations in which the cornea is abnormally shaped.  Unlike many others, though, this one has other significant facial and systemic features as well, especially mental retardation and seizures.

Clinical Correlations: 

The outstanding eye malformation in Neuhauser syndrome is that of an enlarged cornea, the clear front part of the eye.  The impact that this has on vision is difficult to assess since patients also often have significant psychomotor retardation and seizures.  Unusual facial features such as a low hairline, a broad root of the nose, prominent forehead, and downward slanting of the eyelid openings are often noted.  Systemic features include mental retardation, seizures, thyroid disease and decreased muscle tone.


This is a relatively rare disorder and generally appears sporadically.  However, because families with multiple affected sibs have been reported and some parents are consanguineous, it is presumed to be inherited, most likely as an autosomal recessive disorder requiring two mutant genes, one from each parent.  In such families the risk for another affected child is 25 per cent.  No causative mutation has been reported.

Diagnosis and Prognosis: 

This is probably a stable condition although too few cases have been reported to be certain.  Diagnosis requires a multidisciplinary team.

Additional Information
Autosomal recessive