Conditions / Syndrome
oculoectodermal syndrome
info · Syndrome
An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1.
Signs and symptoms
- Preauricular skin tag
- Aplasia cutis congenita
- Limbal dermoid
- Hyperpigmented streaks
- Epicanthus
- Strabismus
- Seizure
- Microcornea
- Anisometropia
- Nystagmus
Also known as: Toriello-Lacassie-Droste syndrome; aplasia cutis congenita-epibulbar dermoids syndrome