Description of the disease * EnglishPolish Pobierz sekcję do PDF Definition 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 Classification Malformation syndrome Synonyms Acrorenal defect-ectodermal dysplasia-diabetes syndrome Defekt kończynowo-nerkowy - dysplazja naskórka - cukrzyca ORPHA code 1133 OMIM code 207780 ICD10 code Q87.8 ICD11 code 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