Storm Syndrome

Weisman et al. (1989) suggested the designation Storm syndrome for a disorder with male-to-male transmission observed in members of 5 generations of a family of German extraction with the name Storm. Early progressive calcific cardiac valvular disease dominated the clinical picture. The cardiac lesions occurred in the mitral and aortic valves predominantly, with mitral valve prolapse, myxomatous degeneration and progression to severe calcific mitral stenosis and aortic stenosis with calcified annuli of both valves. Loss of eyebrows and eyelashes and thinning and graying of scalp hair began in adolescence. This, together with the taut skin over the hands and face and the excessive wrinkling of the palmar skin, created a prematurely aged appearance. Differences from Werner syndrome (277700) were dominant inheritance and lack of cataracts and scleroderma-type changes. Several young adults showed polyarticular arthropathy (diagnosed as Still disease in some); in combination with valvular heart disease, rheumatic fever was diagnosed. Intestinal fat malabsorption also occurred.