EEM syndrome
Overview
A rare syndrome characterized mainly by skin, hair, nail and eye abnormalities as well as missing fingers.
Symptoms
* Cleft hand * Missing finger * Eye disorder (macular dystrophy) * Reduced hair growth * Dental abnormalities * Webbed fingers * Retinal changes * Impaired vision * Small teeth * Widely spaced teeth * Sparse eyebrows * Sparse body hair * Sparse scalp hair * Abnormal tooth position * Missing teeth * Weak eye muscles
Causes
EEM syndrome is caused by mutations in the P-cadherin gene (CDH3). Distinct mutations in CDH3 (located on human chromosome 16) are responsible for the macular dystrophy and spectrum of malformations found in EEM syndrome, due in part to developmental errors caused by the resulting inability of CDH3 to respond correctly to the P-cadherin transcription factor p63.