Living with Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
A rare inherited syndrome with a drooping upper eyelid from birth and fused bones in the lower spine.
Understanding Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
The droopy eyelid (ptosis) is present from birth. GARD says it can be seen in childhood. Other features include fused ankle bones, joint stiffness and a small dimple at the base of the spine.
Signs & symptoms
Symptoms vary from person to person. GARD lists these:
- Drooping upper eyelid (ptosis)
- Fused bones in the lower back
- Fused ankle bones
- Joint stiffness
- Dimple at the base of the spine
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition but doesn't name a gene. It is autosomal dominant, meaning one changed copy of the gene is enough.
Also known as: congenital ptosis and posterior fusion of lumbosacral vertebrae; familial posterior lumbosacral vertebral fusion and eyelid ptosis; faulk-epstein-jones syndrome; vertebral fusion, posterior lumbosacral, with blepharoptosis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome.
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