Engelmann's disease

Eng·el·mann's disease

(ĕng′əl-mənz, -mänz′)
The American Heritage® Medical Dictionary Copyright © 2007, 2004 by Houghton Mifflin Company. Published by Houghton Mifflin Company. All rights reserved.

Camurati-Engelmann disease

A rare autosomal dominant disorder (OMIM:131300) characterised by hyperostosis and sclerosis of the diaphyses of long bones, which usually presents in early childhood with pain, muscular weakness and waddling gait, variably accompanied by exophthalmos, facial paralysis, hearing loss and loss of vision.
 
Molecular pathology
Caued by defects of TGFB1, which encodes a transforming growth factor beta-type cytokine that up- and downregulates proliferation, differentiation, adhesion, migration, apoptosis and other functions.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
References in periodicals archive ?
Clinical and biochemical studies in Engelmann's disease (progressive diaphyseal dysplasia).
Virtually house-bound and in great pain, Arlene, 30, a sufferer of the rare bone condition Engelmann's Disease, has had to give up her career as a paediatrician.