Conditions / Syndrome
blepharocheilodontic syndrome 1
info · Syndrome
A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22.
Signs and symptoms
- Euryblepharon
- Lagophthalmos
- Flat face
- Ectropion of lower eyelids
- Hypertelorism
- High forehead
- Distichiasis
- Sparse hair
- Cleft upper lip
- Conical tooth