Living with Fowler syndrome
A rare genetic brain condition that begins before birth, with unusual brain development, stiff joints, and reduced movement.
Understanding Fowler syndrome
Features include hydranencephaly (very little brain tissue replaced by fluid), unusual blood vessels in the brain and retina, extra amniotic fluid, and little movement before birth with stiff joints (arthrogryposis). In the few reported children who lived beyond infancy, there was severe intellectual and neurologic disability, seizures, a small head, and no functional movement.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Hydranencephaly (fluid in place of brain tissue)
- Stiff joints (joint contractures)
- Club foot
- Too much fluid in the brain (hydrocephalus)
- Enlarged brain fluid spaces (ventriculomegaly)
- Reduced movement before birth
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 brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in FLVCR2 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
- Brain and nervous system specialists (neurologists); 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 FLVCR2 gene cause it. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: cerebral proliferative glomeruloid vasculopathy; encephaloclastic proliferative vasculopathy; fowler vasculopaty; hydranencephaly, fowler type; hydrocephaly/hydranencephaly due to cerebral vasculopathy; proliferative vasculopathy and hydranencephaly/hydrocephaly
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 Fowler syndrome.
Explore research for Fowler syndrome
Explore actively recruiting Fowler syndrome studies with HealthSpark.
Find actively recruiting studies for Fowler 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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