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cardiomyopathy-cataract-hip spine disease syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

cardiomyopathy-cataract-hip spine disease syndrome

MONDO:0015282

Also known as:Krasnow-Qazi syndromeKrasnow Qazi Yermakov syndromecardiomyopathy cataract hip spine disease

Overview

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.

Diagnosis

Biomarker and diagnostic research for cardiomyopathy-cataract-hip spine disease syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for cardiomyopathy-cataract-hip spine disease syndrome.

299 publications have been identified in PubMed for cardiomyopathy-cataract-hip spine disease syndrome. Kisho has analyzed 51 by research type. Research spans Review / Meta-Analysis (80%), Basic Science / Preclinical (10%), and Diagnostic / Biomarker (4%).

Research Type	Count	% of Total
Research summaries	41	80%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 10:23 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1345

GARD

Genetic and Rare Diseases Info Center

GARD:1102

Questions for Your Care Team

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cardiomyopathy-cataract-hip spine disease syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications