Conditions / Syndrome
blepharocheilodontic syndrome 2
info · Syndrome
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12.
Signs and symptoms
- Tooth agenesis
- Ectropion of lower eyelids
- Conical tooth
- Euryblepharon
- Lagophthalmos
- Cleft lip
- Distichiasis
- Flat face
- Hypertelorism
- High forehead