cardiomyopathy-cataract-hip spine disease syndrome
Findings
No curated finding names cardiomyopathy-cataract-hip spine disease syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0015282), read 2026-09-29. CC BY 4.0.
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal intervertebral disk morphologyHPOHP:0005108
- Very frequent (80% to 99% of cases)
- CataractHPO · MondoHP:0000518
- Very frequent (80% to 99% of cases)
- Hypertrophic cardiomyopathyHPOHP:0001639
- Very frequent (80% to 99% of cases)
- PlatyspondylyHPOHP:0000926
- Very frequent (80% to 99% of cases)
- Skeletal dysplasiaHPOHP:0002652
- Very frequent (80% to 99% of cases)
- Abnormal heart valve morphologyHPOHP:0001654
- Frequent (30% to 79% of cases)
Show the remaining 3
- HypertensionHPOHP:0000822
- Occasional (5% to 29% of cases)
- Pulmonary embolismHPOHP:0002204
- Occasional (5% to 29% of cases)
- Dilated cardiomyopathyMondoHP:0001644
Where it sits
- A kind of
Other names
1 name
Resolves to: cardiomyopathy-cataract-hip spine disease syndrome
- Also called
- Krasnow-Qazi syndrome