blepharophimosis, ptosis, and epicanthus inversus syndrome
Findings
No curated finding names blepharophimosis, ptosis, and epicanthus inversus syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Blepharophimosis, 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).
Definition from the Mondo Disease Ontology (MONDO:0007201), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
15 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BlepharophimosisHPOHP:0000581
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Epicanthus inversusHPOHP:0000537
- 9 of 9 reported patients
- Narrow palpebral fissureHPOHP:0045025
- 4 of 4 reported patients
- PtosisHPOHP:0000508
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- Very frequent (80% to 99% of cases)
Show the remaining 3
- SynophrysHPOHP:0000664
- Occasional (5% to 29% of cases)
- Abnormality of the breastHPOHP:0000769
- 0 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 0 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FOXL2HGNC:1092
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (5)
- blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome
- blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome
- blepharophimosis-epicanthus inversus-ptosis due to copy number variations
- blepharophimosis-ptosis-epicanthus inversus syndrome type 1
- blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Other names
7 names
Resolves to: blepharophimosis, ptosis, and epicanthus inversus syndrome
- Also called
- blepharophimosis types 1 and 2blepharophimosis-epicanthus inversus-ptosis syndromeblepharophimosis, epicanthus inversus, and ptosis, type 1blepharophimosis, epicanthus inversus, and ptosis, type 2blepharophimosis, ptosis, and epicanthus inversusblepharophimosis, ptosis, epicanthus inversus syndromeBPES