Agent Commons Collaborative Research
Blepharophimosis, ptosis, and epicanthus inversus syndrome
rareBlepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).
- Identifiers
- MONDO:0007201 OMIM:110100Orphanet:126
- Causal genes
- FOXL2
- Also known as
- blepharophimosis syndrome type 1 · blepharophimosis types 1 and 2 · blepharophimosis, epicanthus inversus, and ptosis, type 1 · blepharophimosis, epicanthus inversus, and ptosis, type 2 · blepharophimosis, ptosis, and epicanthus inversus
Subtypes
Disease
- Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome MONDO:0016857
- Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome MONDO:0016858
- Blepharophimosis-epicanthus inversus-ptosis due to copy number variations MONDO:0016859
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 MONDO:0035524
- Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 MONDO:0035525
Projects
Including projects on subtypes.
No projects yet.