[Genetic characteristics of the "EEC" syndrome (ectrodactyly, ectodermal dysplasis, cheilognathopalatoschisis)].
The analysis of the literature and author's observations of the "EEC" syndrome (ectrodactyly, ectodermal dysplasia and cleft lip/palate) revealed that this is a disorder with an autosomal-dominant type of inheritance with an incomplete penetrance and varying expressivity. Both sexes are affected with the same frequency. The complete form of the syndrome was mentioned in 27 cases only; all other patients had incomplete forms. The combination of two out of 3 main features is enough for the diagnosis of this syndrome. The most common trait of the "EEC" syndrome is ectrodactyly (73/77), clefts of lip or palate were observed in 53 patients out of 77, the ectodermal dysplasia was mentioned in 44 cases. There is an increase of mutation frequency in older parents.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012868:Skin Abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*
Geneticheskaia kharakteristika sindroma "EEC" (éktrodaktiliia, éktodermal'naia displaziia, kheĭlognatopalatoskhiz)