EEM syndrome

EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal recessivecongenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes.

Characteristics

EEM syndrome exhibits a combination of prominent symptoms and features. These include: ectodermal dysplasia (systemic malformations of ectodermal tissues),ectrodactyly ("lobster claw" deformity in the hands and feet),macular dystrophy (a progressive eye disease),syndactyly (webbed fingers or toes),hypotrichosis (a type of hair-loss), and dental abnormalities (hypodontia).

Pathophysiology

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.