blepharophimosis-ptosis-epicanthus inversus syndrome plus
MONDO:0035521Mondo
Findings
No curated finding names blepharophimosis-ptosis-epicanthus inversus syndrome plus yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
35 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
- Very frequent (80% to 99% of cases)
- Epicanthus inversusHPOHP:0000537
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- TelecanthusHPOHP:0000506
- Very frequent (80% to 99% of cases)
- Abnormal lacrimal duct morphologyHPOHP:0011481
- Frequent (30% to 79% of cases)
- Abnormality of refractionHPOHP:0000539
- Frequent (30% to 79% of cases)
- AmblyopiaHPOHP:0000646
- Frequent (30% to 79% of cases)
- Decreased lacrimationHPOHP:0000633
- Frequent (30% to 79% of cases)
- Lacrimal gland aplasiaHPOHP:0007656
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
Show the remaining 23
- Decreased circulating progesteroneHPOHP:0008233
- Occasional (5% to 29% of cases)
- Decreased fertilityHPOHP:0000144
- Occasional (5% to 29% of cases)
- Decreased serum estradiolHPOHP:0008214
- Occasional (5% to 29% of cases)
- Ectopic lacrimal punctumHPOHP:0010748
- Occasional (5% to 29% of cases)
- EctropionHPOHP:0000656
- Occasional (5% to 29% of cases)
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: blepharophimosis-ptosis-epicanthus inversus syndrome plus
- Also called
- 3q23 microdeletion syndromeBPES plus