Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome

background

Ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome is a form of ectodermal dysplasia, a group of disorders that affect the outer layer of the developing embryo. This layer, called the embryonic ectoderm, develops into many parts of a baby's body, including the eyes, skin, nails, and hair. In ectodermal dysplasias, these parts of the body do not develop normally.
Symptoms of EEC syndrome can range from mild to severe and usually include abnormal or absent fingers and toes, hair defects, cleft palate (an incomplete closure of the roof of the mouth), cleft lip (an abnormal groove in the upper lip beneath the nose), and other facial deformities. In addition, the urinary tract may be affected.
Eye problems, such as scarring on the cornea, become more prominent as people with EEC age. The reason for this is unknown. In addition, infections of the eyelids and the lining of the eye are common.
There are two types of the disease, each caused by a different genetic mutation. EEC1 is caused by mutations or defects of the TP63 gene. This is the most common form of the disease and is often referred to simply as EEC. EEC3 is caused by mutations of the TP73L gene. A third form of the disease, EEC2, has been proposed, but researchers do not believe that this is a distinct disorder.
EEC syndrome is an inherited genetic disorder that is passed down in families as an autosomal dominant trait. Individuals receive two copies of most genes from their parents (one from the mother and one from the father). To inherit a dominant trait, an individual needs to inherit only one copy of the defective gene.
EEC syndrome is extremely rare but the exact incidence is unknown. There is currently no known cure for EEC syndrome but treatment aims to reduce symptoms and prevent complications.

Related Terms

Cleft lip, cleft palate, ectrodactyly-ectodermal dysplasia-clefting syndrome, EEC, EEC1, EEC2, EEC3, EEC syndrome 1, EEC syndrome 2, EEC syndrome 3, TP63 gene, TP73L gene.

types of the disease

General: There are two main types of ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome. A third form of the disease, EEC2, has been proposed, but researchers have determined that this is not a distinct form of the disease.
EEC1: EEC1 is the most common form of EEC syndrome and is often referred to simply as EEC. This form of the disease is caused by a mutation in the TP63 gene.
EEC3: A second form of the disease, EEC3, is caused by a mutation in the TP73L gene. According to limited available information, the symptoms of EEC3 seem to be limited to the hands, feet, lips and palate, and urinary system.