Conditions / Syndrome
nevoid basal cell carcinoma syndrome 1
info ยท Syndrome
A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
Signs and symptoms
- Frontal bossing
- Milia
- Parietal bossing
- Strabismus
- Skin tags
- Broad face
- Coarse facial features
- Polydactyly
- Odontogenic keratocysts of the jaw
- Irregular ossification of hand bones
Also known as: basal cell nevus syndrome 1