cleidocranial dysplasia

info · Genetic · ICD-10: Q74.0

An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull.

Signs and symptoms

Parietal bossing
Abnormal facility in opposing the shoulders
Supernumerary tooth
Depressed nasal bridge
Frontal bossing
Short stature
Large fontanelles
Aplastic clavicle
Moderately short stature
Hearing impairment

Also known as: Marie-Sainton Disease; cleidocranial dysostosis