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cardiomyopathy-cataract-hip spine disease syndrome

MeSH: C537616ORPHA: 1345

Contents

  1. 1. Available Treatments
  2. 2. Clinical Presentation
  3. 3. Classification & Codes

Available Treatments (0)

No treatments linked yet

Clinical trials or compassionate use may be available — consult a specialist.

Clinical Presentation

Signs and symptoms associated with cardiomyopathy-cataract-hip spine disease syndrome, sourced from HPO and Orphanet clinical annotations.

CataractHypertensionPlatyspondylyJoint stiffnessCongestive heart failureHypertrophic cardiomyopathyAbnormal heart valve morphologyPulmonary embolismSkeletal dysplasiaOsteoarthritisArterial thrombosisAbnormal intervertebral disk morphologyAvascular necrosisArrhythmia

Classification & Codes

MeSH Code

C537616

Orphanet Code

ORPHA:1345
cardiomyopathy-cataract-hip spine disease syndrome
MeSHC537616
OrphanetORPHA:1345
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO