[Diabetes insipidus, diabetes mellitus, optic nerve atrophy, and deafness--an autosomal recessive syndrome (didmoad-syndrome) (author's transl)].
By reporting a further case attention is drawn to the autosomal recessive inherited DIDMOAD-syndrome. While diabetes mellitus and optic atrophy are easy to recognize, one often has specifically to look for deafness, diabetes insipidus and the frequently associated dilatation of the urinary tract. Awareness of this condition is important for genetic counselling and vocational guidance, and allows to avoid invasive neuroradiological investigations.
D002648:Child; D003919:Diabetes Insipidus / Q000235:genetics*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics*; D004392:Dwarfism / Q000235:genetics; D005260:Female; D006311:Hearing Disorders / Q000235:genetics*; D006801:Humans; D006869:Hydronephrosis / Q000235:genetics; D009896:Optic Atrophy / Q000235:genetics*; D013577:Syndrome
Diabetes insipidus, Diabetes mellitus, Optikusatrophie und Schwerhörigkeit--ein autosomal-rezessiv vererbtes Syndrom (DIDMOAD-Syndrom).