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Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome

Disease definition

A rare, genetic, rheumatologic disease characterized by congenital or early-onset camptodactyly and symmetrical, polyarticular, non-inflammatory, large joint arthropathy with synovial hyperplasia, as well as progressive coxa vara deformity and, occasionally, non-inflammatory pericarditis.

ORPHA:2848

Classification level: Disorder
  • Synonym(s):
    • Arthropathy-camptodactyly syndrome
    • CACP syndrome
    • Jacobs syndrome
    • Pericarditis-arthropathy-camptodactyly syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal, Infancy, Childhood
  • ICD-10: M12.8
  • OMIM: 208250
  • UMLS: C1859690
  • MeSH: -
  • GARD: 306
  • MedDRA: -

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.