EEC Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

Overview

Type of disease: Rare conditions

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); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. In more than 90% of cases, it is caused by mutations in the TP63 gene. EEC syndrome is inherited in an autosomal dominant manner. Management typically requires evaluation by various specialists; treatment may vary depending on the signs and symptoms present in the affected individual. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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