Multicentric carpotarsal osteolysis syndrome is a rare skeletal disorder, usually presenting in early childhood with a clinical picture mimicking juvenile rheumatoid arthritis. Progressive destruction of the carpal and tarsal bone usually occurs and other bones may also be involved. Chronic renal failure is a frequent component of the syndrome. Mental retardation and minor facial anomalies have been noted in some patients. Autosomal dominant inheritance has been documented in many families (Pai and Macpherson, 1988).
See also Torg-Winchester syndrome (259600), an autosomal recessive multicentric osteolysis syndrome. [from OMIM]
- MedGen UID:
- 436237
- •Concept ID:
- C2674705
- •
- Disease or Syndrome