Smith-McCort dysplasia 1

info · Genetic

A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21.

Signs and symptoms

Barrel-shaped chest
Limitation of joint mobility
Short stature
Waddling gait
Atlantoaxial instability
Genu varum
Metaphyseal irregularity
Short neck
Kyphosis
Platyspondyly