hypochondroplasia

info · Genetic · ICD-10: Q77.4

An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism.

Signs and symptoms

Short long bone
Widened interpedicular distance
Depressed nasal bridge
Prominent forehead
Disproportionate short-limb short stature
Flared metaphysis
Aplasia/hypoplasia of the extremities
Limited elbow extension
Brachydactyly
Genu varum