Синдром камптодактилії-артропатії-coxa vara-перикардиту
ORPHA:2848· ICD-10 M12.8· Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy, Neonatal