Diabetes insipidus, diabetes mellitus, optic atrophy and deafness. A clinical and genetic study.
Two Iraqi sisters and a female cousin developed diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and deafness (D), (the 'DIDMOAD' syndrome) before the age of 12 years. One girl exhibited all the features of this disease complex only 3 months after an unusually late onset of recognizable symptoms at 11 years 9 months. Another girl died suddenly and unexpectedly. This family study illustrates the recessive inheritance pattern of the syndrome.
D002648:Child; D002675:Child, Preschool; D003638:Deafness / Q000235:genetics; D003919:Diabetes Insipidus / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D005260:Female; D006801:Humans; D006869:Hydronephrosis / Q000000981:diagnostic imaging / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics; D010375:Pedigree; D011141:Polyuria / Q000235:genetics; D011859:Radiography; D013577:Syndrome