Orphanet: Cardiomyopathy cataract hip spine disease syndrome

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Cardiomyopathy-cataract-hip spine disease syndrome

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.


Classification level: Disorder
  • Synonym(s):
    • Krasnow-Qazi syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: -
  • OMIM: -
  • UMLS: C2931548
  • MeSH: -
  • GARD: 1102
  • MedDRA: -

Detailed information


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