EEM syndrome

congenital malformation disorder affecting tissues associated with the ectoderm (skin, hair, nails, teeth), and also the hands, feet and eyes.^[1][3]

hair-loss),^[4] and dental abnormalities (hypodontia).^[2]

p63.^[6]

TP73L, found on human chromosome 3) may also play a role in EEM syndrome.^[6] Mutations in this gene are associated with the symptoms of EEM and similar disorders, particularly ectrodactyly.^[7]

autosomal recessive disorder,^[2] which means the defective gene is located on an autosome, and two copies of the defective gene - one from each parent - are required to inherit the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.^{[citation needed}