Conditions / Genetic
cherubism 1
info · Genetic
A cherubism that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3.
Signs and symptoms
- Central giant cell lesion of the jaw
- Jaw swelling
- Round face
- Constriction of peripheral visual field
- Narrow palate
- Multiple impacted teeth
- Alveolar ridge overgrowth
- Reduced visual acuity
- Dental malocclusion
- Visual impairment