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camptodactyly-arthropathy-coxa vara-pericarditis syndrome

MeSH: C537560ORPHA: 2848

Contents

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

Overview

autosomal recessive genetic condition

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 camptodactyly-arthropathy-coxa vara-pericarditis syndrome, sourced from HPO and Orphanet clinical annotations.

Wrist swellingCamptodactyly of toeCoxa varaLumbar hyperlordosisOsteoarthritis of the elbowKnee osteoarthritisPolyarticular arthropathyFlattened femoral headCamptodactyly of fingerOsteoporosisBone cystShort femoral neckMitral valve prolapseMitral regurgitationPericarditisPleuritisAscitesInfantile sensorineural hearing impairmentNuclear cataract

Classification & Codes

MeSH Code

C537560

Orphanet Code

ORPHA:2848
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
MeSHC537560
OrphanetORPHA:2848
Treatments0 drug(s)
Symptoms on record19 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO