Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
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NORD is very grateful to Prof. dr. Hans van Bokhoven, Head Molecular Neurogenetics, Department of Human Genetics, Nijmegen Center for Molecular Life Sciences & Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre,The Netherlands, for assistance in the preparation of this report.
Synonyms of Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
- ectrodactyly-ectodermal dysplasia-clefting syndrome
- ectrodactyly-ectodermal dysplasia-orofacial clefts
- EEC syndrome
- EEC syndrome type 1
- EEC syndrome type 3
Ectrodactyly ectodermal dysplasia cleft lip/palate (EEC) syndrome is a rare genetic disorder. Symptoms can vary greatly from one person to another. Affected individuals often have abnormalities affecting the limbs including ectrodactyly, a condition in which part or all of the central digits (fingers or toes) are missing. Ectrodactyly often affects the middle fingers or toes, but can present differently in different people (or be absent altogether). A groove or gap in the upper lip (cleft lip) and a groove or gap in the roof of the mouth (cleft palate) may also occur. The ectodermal dysplasia component refers to abnormalities to structures that arise from the outermost layer of the embryo (ectoderm). In EEC syndrome, this generally affects the hair, teeth, nails, skin and sweat glands. Individuals with EEC syndrome can also develop a variety of additional symptoms including abnormalities of the genitourinary system and the eyes. Intelligence does not seem to be affected. Most cases of EEC syndrome are caused by mutations of the p63 gene and are either new (spontaneous) mutations or are inherited as autosomal dominant disorders.
There are at least four other syndromes caused by mutations of the p63 gene including AEC/Hay-wells syndrome, Rapp-Hodgkin syndrome, limb-mammary syndrome, and ADULT syndrome. In addition, p63 mutations have also been reported as the cause of nonsyndromic split hand/foot malformation and nonsyndromic cleft lip/palate (CL/P). There is considerable overlap among these disorders and some researchers consider them different expressions of one disease process. Despite the overlap, the p63-associated syndromes have their own characteristic physical findings related, in part, to the specific mutation of the p63 gene present. These syndromes are further classified as forms of ectodermal dysplasia, a group of disorders characterized by abnormalities that occur during early embryonic development. Ectodermal dysplasias typically affect the hair, teeth, nails and/or skin.
Organizations related to Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate
Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder.
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