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Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is one of more than 100 ectodermal dysplasia syndromes. EEC syndrome is characterized by deformities of the hands and feet (ectrodactyly), abnormalities of the skin, hair, and nails (ectodermal dysplasia), and cleft lip and/or cleft palate (clefting). Other symptoms include dental, eye, skin, and kidney abnormalities.
Ectodermal dysplasias (ED) are a group of inherited disorders that result from problems in early development of the ectodermal layer in the embryo. Problems with the ectoderm cause the hair, teeth, nail, and glands to develop and function abnormally. EEC syndrome is characterized by deformities of the hands and feet (ectrodactyly) that are sometimes referred to as lobster-claw deformities, abnormalities of the skin, hair, and nails (ectodermal dysplasia), and cleft lip and/or cleft palate (clefting). Other abnormalities include absence of the teeth and other dental abnormalities, decreased ability to sweat, absence of tear ducts, photophobia (increased sensitivity to light), and kidney abnormalities. Most individuals with EEC syndrome have some of these abnormalities, but very few individuals have all of these abnormalities.
EEC syndrome is genetic disorder with autosomal dominant inheritance with incomplete penetrance and variable expression. It can be inherited from a parent, but many individuals are the first in their family to be affected. DNA testing is now available and may be used to clarify the diagnosis in an individual with characteristic symptoms of the syndrome.
The cosmetic concerns of EEC can have a tremendous impact on the quality of life of an individual with EEC syndrome. The facial and limb differences can be socially isolating and physically challenging. Children and adults with EEC may be socially ostracized due to their physical appearance. Many individuals erroneously assume that people with EEC syndrome have limited abilities. It is important to increase awareness with educational programs and to take proactive steps to foster self-esteem in children with EEC syndrome.
Author Info: Kathleen A. Fergus MS, CGC, Thomson Gale, Gale, Detroit, Gale Encyclopedia of Genetic Disorders Part II, 2005
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