Microphthalmia, Syndromic 2

Background and History: 

This is one of several disorders in which the eyes are abnormally small.  It differs from some others in that it occurs almost entirely in females and is associated with cataracts.

Clinical Correlations: 

Small, deep-set eyes and cataracts are present at birth.  The lid openings are often small and the lids appear droopy.  Some patients have glaucoma as well

The face is elongated and the nose is short with a broad tip.  The primary teeth may erupt late and persist into at least adolescence.  The number of teeth is often abnormal as well.  The heart often has holes in the partitions and the valves may be abnormally floppy.  A few patients have a cleft palate.  Some patients have normal intelligence but others have psychomotor delays. 


This condition is caused by a mutation on the X chromosome which is apparently lethal in males and therefore the inheritance pattern is known as X-linked dominant.  A few pedigrees with mother-daughter transmission have been reported.

Diagnosis and Prognosis: 

The diagnosis requires collaboration between ophthalmologists, dentists and pediatricians.  The prognosis is good in most patients.  Cataracts can be surgically removed and glaucoma needs to be treated.

Additional Information
X-linked dominant, mother affected