Orphanet: Cardiomyopathy cataract hip spine disease syndrome
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Cardiomyopathy-cataract-hip spine disease syndrome

Disease definition

A 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.

ORPHA:1345

Classification level: Disorder
  • Synonym(s):
    • Krasnow-Qazi syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Adolescent, Adult
  • ICD-10: I42.0
  • OMIM: -
  • UMLS: C2931548
  • MeSH: -
  • GARD: 1102
  • MedDRA: -

  A summary on this disease is available in Deutsch (2014) Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf) Russian (2014, pdf) Polski ()

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Further information on this disease

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.