Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja A rare genetic disease characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. Disease data Klasyfikacja Malformation syndrome Synonimy Acrorenal defect-ectodermal dysplasia-diabetes syndrome Defekt kończynowo-nerkowy - dysplazja naskórka - cukrzyca Kod ORPHA 1133 Kod OMIM 207780 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