Blepharophimosis-ptosis-epicanthus inversus syndrome
ORPHA:126· ICD-10 Q10.3
Definition
A rare ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type 1) or without primary ovarian insufficiency (POI; type 2).
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal