Overview
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is an extremely rare genetic condition that affects multiple parts of the body, most notably the eyes and face. People with this syndrome have distinctive facial features (facial dysmorphism), displacement of the lens inside the eye (lens dislocation or ectopia lentis), abnormalities in the front part of the eye (anterior segment abnormalities), and spontaneous filtering blebs, which are small fluid-filled blisters that form on the surface of the eye and allow fluid to drain from inside the eye. These eye problems can lead to significant vision difficulties and may increase the risk of glaucoma or other complications. The facial features may include a flat midface, broad nasal bridge, or other subtle differences in facial structure. Because this condition is so rare, the treatment approach is mainly focused on managing symptoms. Eye surgeries may be needed to address lens dislocation or glaucoma. Regular monitoring by eye specialists is essential to preserve vision. There is currently no cure for this syndrome, and management is tailored to each individual's specific symptoms and needs. Genetic counseling is recommended for affected families to understand the inheritance pattern and recurrence risk.
Also known as:
Key symptoms:
Unusual facial featuresDisplacement of the lens in the eyeAbnormalities in the front part of the eyeSpontaneous fluid-filled blisters on the eye surfaceVision problems or blurred visionIncreased eye pressure or glaucoma riskFlat or underdeveloped midfaceBroad nasal bridgeNearsightedness or other refractive errorsSensitivity to light
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome.
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Specialists
View all specialists →No specialists are currently listed for Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs 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 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs 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.How severe is the lens dislocation, and does it need surgery now or can it be monitored?,What is my risk of developing glaucoma, and how often should eye pressure be checked?,Are the filtering blebs helping or could they become a problem?,Should genetic testing be done, and what might it tell us?,What vision aids or accommodations would be helpful for school or work?,Are there any activities or sports I should avoid to protect my eyes?,How often should I have follow-up appointments with an eye specialist?
Common questions about Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
What is Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome?
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is an extremely rare genetic condition that affects multiple parts of the body, most notably the eyes and face. People with this syndrome have distinctive facial features (facial dysmorphism), displacement of the lens inside the eye (lens dislocation or ectopia lentis), abnormalities in the front part of the eye (anterior segment abnormalities), and spontaneous filtering blebs, which are small fluid-filled blisters that form on the surface of the eye and allow fluid to drain from inside the
How is Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome inherited?
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome typically begin?
Typical onset of Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is childhood. Age of onset can vary across affected individuals.