posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
MONDO:0008650Mondo
Findings
No curated finding names posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is characterized by congenital ptosis and posterior fusion of the lumbosacral vertebrae. It has been described in a mother and her two daughters.
Definition from the Mondo Disease Ontology (MONDO:0008650), read 2026-09-29. CC BY 4.0.
Features
6 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.
- Abnormal vertebral body morphologyHPOHP:0003312
- Very frequent (80% to 99% of cases)
- Posterior fusion of lumbosacral vertebraeHPOHP:0005626
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- Sacral dimpleHPOHP:0000960
- Frequent (30% to 79% of cases)
- Tarsal synostosisHPOHP:0008368
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
- Also called
- Faulk-Epstein-Jones syndrome