EEM syndrome

EEM syndrome is a combination of malformations that includes ectodermal dysplasia, ectrodactyly, and vision loss due to macular dystrophy. Other possible signs are hypotrichosis, tooth anomaly and missing eyebrows.

The syndrome is innate and is probably inherited as an autosomal recessive trait. The cause is mutations in the cadherin-3 gene at the locus 16q22.1. So far, there are seven families whose relatives have described the EEM syndrome.