Myofibromatosis, Juvenile

Myofibromatosis, Infantile

C0432284

D018224/Q000151

0

20121105

63

20150818

C562978

Fibromatosis, Congenital Generalized

3

A rare hereditary autosomal dominant form of myofibromatiosis characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. Skeletal and muscular lesions occur in about 50% of patients. Lesions may be solitary or multicentric, and they may be present at birth or become apparent in early infancy or occasionally in adult life. Mutations in the PDGFRB gene have been identified. OMIM: 228550

T801941

T801940

T000880811

OMIM (2013)

T191