Conditions / Genetic
Camurati-Engelmann disease 1
info · Genetic
An osteosclerosis characterized by the cortical thickening of the diaphyses of the long bones that has_material_basis_in domain-specific heterozygous mutations in the transforming growth factor-beta-1 gene (TGFB1) on chromosome 19q13.
Signs and symptoms
- Lower limb pain
- Cortical thickening of long bone diaphyses
- Scoliosis
- Limb pain
- Waddling gait
- Diaphyseal sclerosis
- Cranial nerve compression
- Narrowing of medullary canal
- Increased bone mineral density
- Genu valgum