Ectrodactyly–ectodermal dysplasia–cleft syndrome
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Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome[1] and split hand–split foot–ectodermal dysplasia–cleft syndrome[2]: 520 is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait.[3]: 571 EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts.[4] Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections,[5] obstruction of the nasolacrimal duct,[6] decreased pigmentation of the hair and skin, missing or abnormal teeth, enamel hypoplasia, absent punctae in the lower eyelids, photophobia, occasional cognitive impairment and kidney anomalies, and conductive hearing loss.[7][8]
Ectrodactyly–ectodermal dysplasia–cleft syndrome | |
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Other names | EEC syndrome |
Ectrodactyly–ectodermal dysplasia–cleft syndrome is autosomal dominant | |
Specialty | Medical genetics |