EEC syndrome

Disease Overview

EEC syndrome (Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate) is a rare form of ectodermal dysplasia. The symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract.[5162][11198] EEC syndrome can be divided into two different types defined by the underlying cause. More than 90% of individuals have EEC syndrome type 3 (EEC3), caused by mutations in the TP63 gene. The of individuals with EEC syndrome are thought to have a mutation in a region on chromosome 7, known as EEC syndrome type 1 (EEC1). EEC syndrome is inherited in an autosomal dominant manner.[5163] Management typically requires evaluation by various specialists. Treatment varies depending on the signs and symptoms present in the affected individual.[5163]

Synonyms

• Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome
• Rudiger syndrome 1
• Walker-Clodius syndrome
• Ectrodactyly-ectodermal dysplasia-cleft lip/cleft palate
• Ectrodactyly-cleft lip/palate syndrome
• Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome