Conditions / Syndrome
blepharophimosis, ptosis, and epicanthus inversus syndrome
info · Syndrome
A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3.
Signs and symptoms
- Blepharophimosis
- Epicanthus inversus
- Narrow palpebral fissure
- Telecanthus
- Ptosis
- Amenorrhea
- Premature ovarian insufficiency
- Strabismus
- Hypermetropia
- Microcornea