Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare, genetic, ectodermal dysplasia syndrome characterized by the association of hypohidrotic ectodermal dysplasia (manifesting with the triad of hypohidrosis, anodontia/hypodontia and hypotrichosis) with primary hypothyroidism and respiratory tract ciliary dyskinesia. Patients frequently present urticaria pigmentosa-like skin pigmentation, increased mast cells and melanin depositions in the dermis and severe, recurrent chest infections. There have been no further descriptions in the literature since 1986. Disease data Klasyfikacja Malformation syndrome Synonimy ANOTHER syndrome Zespół HEDH Zespół ANOTHER HEDH syndrome Kod ORPHA 1882 Kod OMIM 225050 Kod ICD10 Q82.4 Kod ICD11 LD27.02 *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