blepharoptosis-myopia-ectopia lentis syndrome
MONDO:0007202Mondo
Findings
No curated finding names blepharoptosis-myopia-ectopia lentis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by bilateral congenital blepharoptosis, ectopia lentis and high myopia.
Definition from the Mondo Disease Ontology (MONDO:0007202), read 2026-09-29. CC BY 4.0.
Features
10 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.
- Ectopia lentisHPOHP:0001083
- Very frequent (80% to 99% of cases)
- GlaucomaHPOHP:0000501
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Fingernail dysplasiaHPOHP:0100798
- Frequent (30% to 79% of cases)
- Palpebral edemaHPOHP:0100540
- Frequent (30% to 79% of cases)
- Abnormal helix morphologyHPOHP:0011039
- Occasional (5% to 29% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Occasional (5% to 29% of cases)
- Iris colobomaHPOHP:0000612
- Occasional (5% to 29% of cases)
- Prominent occiputHPOHP:0000269
- Occasional (5% to 29% of cases)
Where it sits
- A kind of