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About: Ectrodactyly–ectodermal dysplasia–cleft syndrome     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : yago:WikicatSyndromes, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:Abstraction100002137yago:Attribute100024264yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Disease114070360yago:GeneticDisease114151139yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatGeneticDisordersdiseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatSyndromes New Facet based on Instances of this Class

Ectrodactyly–ectodermal dysplasia–cleft syndrome, or EEC, and also referred to as EEC syndrome and split hand–split foot–ectodermal dysplasia–cleft syndrome is a rare form of ectodermal dysplasia, an autosomal dominant disorder inherited as a genetic trait. EEC is characterized by the triad of ectrodactyly, ectodermal dysplasia, and facial clefts. Other features noted in association with EEC include vesicoureteral reflux, recurrent urinary tract infections, obstruction of the nasolacrimal duct, 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.