Overview
Blindness-scoliosis-arachnodactyly syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the eyes, spine, and hands. The syndrome is characterized by three main features: severe vision loss or blindness, scoliosis (an abnormal sideways curvature of the spine), and arachnodactyly (unusually long, slender fingers and toes that resemble spider legs). Because this condition is so rare, very few cases have been described in the medical literature, and our understanding of it remains limited. The blindness in this condition is typically present from birth or develops in early life and may be caused by abnormalities in the structure of the eye. The scoliosis can range from mild to severe and may worsen as a child grows, potentially requiring bracing or surgery. Arachnodactyly, while often not painful, is an important clinical clue that helps doctors recognize this syndrome and distinguish it from other conditions with overlapping features, such as Marfan syndrome. Because there is currently no cure for this syndrome, treatment focuses on managing each symptom individually. This may include vision aids and support services for blindness, orthopedic care for scoliosis, and regular monitoring by a team of specialists. Early diagnosis and coordinated care can help improve quality of life for affected individuals.
Key symptoms:
Severe vision loss or blindness from birth or early lifeAbnormal curvature of the spine (scoliosis)Unusually long and slender fingers and toes (arachnodactyly)Joint hypermobility or loose jointsTall, thin body buildAbnormalities of the eye structurePossible developmental delaysSkeletal abnormalities beyond the spine
Clinical phenotype terms (11)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Blindness-scoliosis-arachnodactyly syndrome.
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Specialists
View all specialists →No specialists are currently listed for Blindness-scoliosis-arachnodactyly syndrome.
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 Blindness-scoliosis-arachnodactyly syndrome.
Community
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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.What is the specific cause of my child's vision loss, and is any treatment possible?,How severe is the scoliosis, and how often should it be monitored?,Should we pursue genetic testing, and what type would be most helpful?,Are there other organ systems we should be screening for problems?,What therapies or support services are available for vision impairment?,Is there a risk that future children could also be affected?,Are there any research studies or registries we should consider joining?
Common questions about Blindness-scoliosis-arachnodactyly syndrome
What is Blindness-scoliosis-arachnodactyly syndrome?
Blindness-scoliosis-arachnodactyly syndrome is an extremely rare genetic condition that affects multiple body systems, particularly the eyes, spine, and hands. The syndrome is characterized by three main features: severe vision loss or blindness, scoliosis (an abnormal sideways curvature of the spine), and arachnodactyly (unusually long, slender fingers and toes that resemble spider legs). Because this condition is so rare, very few cases have been described in the medical literature, and our understanding of it remains limited. The blindness in this condition is typically present from birth
How is Blindness-scoliosis-arachnodactyly syndrome inherited?
Blindness-scoliosis-arachnodactyly syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Blindness-scoliosis-arachnodactyly syndrome typically begin?
Typical onset of Blindness-scoliosis-arachnodactyly syndrome is neonatal. Age of onset can vary across affected individuals.