Summary
Camurati-Engelmann syndrome (CES) is a rare disorder, either transmitted as an autosomal dominant trait or sometimes occurring de novo. It is of childhood onset and characterized by generalized bone dysplasia with widening of the diaphyses of tubular bones. The bones most frequently involved are the tibia, femur, humerus, ulna, radius, and the base of the skull. Clinically, patients present with bone pain, particularly in legs, muscle weakness and atrophy of, waddling gait, increased fatigability, headache, cranial nerve deficits, and delayed puberty. Radiographically, the shaft of long bones shows symmetric fusiform thickening of the cortex and widening of the medullary cavity. Vascular (Raynaud's phenomenon) and hematological (anemia, leukopenia, increased erythrocyte sedimentation rate) and features are commonly associated with the disease. The large variation of phenotypes within individuals and families, concerning the topography and symmetry of dysplasia, led some authors to consider CES and Ribbing disease as phenotypic variations of the same disorder. Clinical management relies on long-term treatment by corticosteroids which contribute to improvement of clinical and radiological signs. CES has been recently ascribed to mutations in a gene called TGFB1 (Transforming Growth Factor Beta 1). Camurati-Engelmann syndrome type II refers to cases where no mutation was found. *Author: Orphanet Editorial Team (February 2005)*
