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Cardiomyopathy-cataract-hip spine disease syndrome

Synonym(s) Krasnow-Qazi syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Adolescent
ICD-10 -
  • C2931548
MeSH -
MedDRA -


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.

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