EEM Syndrome

Background and History: 

This is a rare disorder of hair, retina, teeth, and of the fingers and toes. 

Clinical Correlations: 

The retina (light sensing tissue) inside the eye undergoes a progressive degeneration beginning in the first or second decades of life.  Vision is, of course, impacted and many individuals are legally blind by the 4th decade.  Hair on the scalp, eyebrows, and eyelashes are sparse almost from birth.  The teeth have wide spaces between many of them, and some teeth may be missing.  The fingers and toes are often webbed. 


This disorder requires the presence of two mutations for expression and therefore follows an autosomal recessive pattern.  Both parents must carry a single copy of the mutation and when they each pass it to their child (a 25% possibility), the child will likely have this syndrome. 

Diagnosis and Prognosis: 

Dermatologists, pediatricians and ophthalmologists may collaborate to make the diagnosis.  No treatment is available for the basic disorder but low vision aids may be helpful for some patients, at least for a period of time.  Lifespan is normal.  Hand surgery may help restore function in severe cases. 

Additional Information
Autosomal recessive