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Cardiomyopathy - cataract - hip spine disease

Orpha number ORPHA1345
Synonym(s) Krasnow-Qazi syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal recessive
Age of onset Adolescence / Young adulthood
ICD-10 -
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Cardiomyopathy - cataract - hip spine disease describes the extremely rare triad of dilated cardiomyopathy associated the extracardiac manifestations premature cataracts and articular disease of the hips and spine including hip joint degeneration, irregular intervertebral disks, and platyspondyly. The ocular abnormalities are often the first symptoms to arise. No new updates since 1985.


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