Camurati-Engelmann disease 2

info · Genetic

An osteosclerosis characterized by progressive diaphyseal dysplasia, associated with a waddling gait, muscle weakness, and severe leg pain that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41.

Signs and symptoms

Elevated erythrocyte sedimentation rate
Skeletal muscle atrophy
Elevated circulating alkaline phosphatase concentration
Hip contracture
Lower limb pain
Knee flexion contracture
Hyperostosis
Disproportionate tall stature
Osteopenia
Waddling gait