Key Warning Signs Of EEC Syndrome

Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC syndrome) is a type of ectodermal dysplasia or a group of disorders that affect the ectoderm or outer embryonic tissue that helps form the sweat glands, teeth, skin, hair, and nails. Depending on the underlying cause, EEC syndrome can be classified into one of two different types. EEC syndrome type 3 is the most common variation of this disorder, and it is a result of mutations in the TP63 gene. EEC syndrome type 1 is a very rare type of EEC and is the result of a mutation in the q arm or long arm region of chromosome seven. EEC syndrome is inherited in an autosomal dominant fashion. It can be diagnosed by a physical exam and genetic testing. If the mutation in chromosome seven or the TP63 gene is known and runs in the family, diagnosis may be made through genetic testing before the birth of the child.