24 CASES OF THE EEC-SYNDROME - CLINICAL PRESENTATION AND MANAGEMENT

Twenty-four cases of EEC syndrome were identified as part of a nationw ide study. Ectodermal dysplasia, by study definition, was present in a ll cases and hair and teeth were universally affected. Nail dysplasia was present in 19 subjects (79%) and the skin was affected in 21 (87%) . The presence of hypohidrosis was not noted as a predominant feature in the syndrome and its occurrence appeared to depend on the presence of all other features. Distal Limb defects from simple syndactyly to t etramelic cleft hand and foot were identified, including preaxial anom alies. Orofacial clefting was identified in 14 cases (58%) and lacrima l duct anomaly in 21 (87%). Significant clinical problems encountered were chiefly cosmetic or ophthalmological, but conductive deafness and genitourinary problems in some cases required surgical intervention. Altered self-image was also noted in some cases. Multidisciplinary man agement is necessary with the early involvement of the clinical geneti cist. Developmentally, the EEC syndrome and related disorders represen t disorders of ectodermal/mesodermal interaction. Candidate regions in clude 7q21.3, the ''ectrodactyly'' locus; other candidates include dev elopmental genes implicated in the ectodermal/mesodermal interactive p rocess.