/cardiomyopathy-cataract-hip spine disease syndrome

cardiomyopathy-cataract-hip spine disease syndrome

Rare Disease

MONDO:0015282

Also Known As

Krasnow-Qazi syndromeKrasnow Qazi Yermakov syndromeKrasnow Qazi syndromecardiomyopathy cataract hip spine diseasefamilial dilated cardiomyopathy associated with cataracts and hip-spine disease

Definition

Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy, premature cataract, and articular disease of the hips and spine characterized by hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. There have been no further descriptions in the literature since 1985.