Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare ectodermal dysplasia syndrome characterized by the association of ectodermal dysplasia (with hypotrichosis affecting scalp hair, eyebrows, and eyelashes, and partial anodontia), ectrodactyly, and macular dystrophy (appearing as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels). Variable additional limb defects (including absence deformities, polydactyly, syndactyly, or camptodactyly) have also been described, the hands often being more severely affected than the feet. Disease data Klasyfikacja Malformation syndrome Synonimy Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome Dysplazja ektodermalna - ektrodaktylia - dystrofia plamki Kod ORPHA 1897 Kod OMIM 225280 Kod ICD10 Q87.8 Kod ICD11 LD27.0Y *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl