Living with Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
A rare inherited condition with lens of the eye out of place, other eye differences, and distinct facial features.
Understanding Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
People can develop painless clear cysts on the eye surface called filtering blebs. Facial features include flat cheeks and a prominent, beaked nose. It usually shows up in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Lens out of place (ectopia lentis)
- Cataract (clouding of the lens)
- Nearsightedness (myopia)
- High eye pressure
- Loose, flexible joints
- Long, slender fingers
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 eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in ASPH are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Eye disease specialists (ophthalmologists); 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
Changes in the ASPH gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome; facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; facial dysmorphism, lens dislocation, anterior segment abnormalities, nontraumatic conjunctive cyst syndrome; facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb syndrome; fdlab (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering bleb) syndrome; fdlab syndrome
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 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome.
Explore research for Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Explore actively recruiting Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome studies with HealthSpark.
Find actively recruiting studies for Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.