Overview
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is an extremely rare genetic condition that combines abnormalities of the lower spine with drooping of the upper eyelids (called blepharoptosis or ptosis). In this syndrome, some of the bones in the lower back and sacral area (the lumbosacral vertebrae) are fused together at the back, meaning they are joined when they should normally be separate. At the same time, affected individuals have drooping eyelids, which can affect one or both eyes and may interfere with vision if severe. This condition falls under a group of disorders involving multiple birth defects affecting different body systems. Because the spine is involved, some people may experience stiffness or reduced flexibility in the lower back, and in some cases there may be associated neurological symptoms depending on how the spinal fusion affects nearby nerves. The eyelid drooping can range from mild to severe and may require surgical correction if it blocks the line of sight, especially in young children where it could affect visual development. Because this syndrome is so rare, there is very limited information about its full range of symptoms, natural history, and optimal treatment. Management is generally supportive and symptom-based, meaning doctors address each problem individually. Surgical options may be considered for the ptosis, and orthopedic care may be needed for spinal issues. Genetic counseling is recommended for affected families to understand the chance of passing the condition to future children.
Also known as:
Key symptoms:
Drooping of one or both upper eyelids (ptosis)Fusion of lower back and sacral vertebraeReduced flexibility or stiffness in the lower backPossible vision problems due to eyelid droopingShort stature in some casesPossible mild spinal abnormalitiesPossible difficulty with certain physical movements
Clinical phenotype terms (6)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is the eyelid drooping, and does my child need surgery to correct it?,What does the spinal imaging show, and are there any risks to the spinal cord or nerves?,Should we pursue genetic testing to look for the underlying cause?,What physical activities are safe, and are there any that should be avoided?,How often should we schedule follow-up visits for the eyes and spine?,Is there a risk of this condition being passed on to future children?,Are there any signs or symptoms I should watch for that would need urgent medical attention?
Common questions about Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
What is Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome?
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is an extremely rare genetic condition that combines abnormalities of the lower spine with drooping of the upper eyelids (called blepharoptosis or ptosis). In this syndrome, some of the bones in the lower back and sacral area (the lumbosacral vertebrae) are fused together at the back, meaning they are joined when they should normally be separate. At the same time, affected individuals have drooping eyelids, which can affect one or both eyes and may interfere with vision if severe. This condition falls under a group of disorders
How is Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome inherited?
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome typically begin?
Typical onset of Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome is neonatal. Age of onset can vary across affected individuals.