kyphomelic dysplasia

info · Genetic

A bone remodeling disease characterized by bowing of the limbs, primarily affecting the femurs that has_material_basis_in homozygous mutation in the CCN2 gene on chromosome 6q23.

Signs and symptoms

Tibial bowing
Flared metaphysis
Micromelia
Femoral bowing
Limitation of joint mobility
Disproportionate short stature
Thoracic hypoplasia
Ulnar bowing
Short femur
Short humerus

Also known as: pseudocampomelia