Living with Flynn-Aird syndrome
A rare inherited condition affecting the nerves, skin, bones and eyes, with hearing loss, vision problems and balance trouble, described in one family.
Understanding Flynn-Aird syndrome
It has been described in 10 members from five generations of one family. Features include eye problems (cataracts, retinitis pigmentosa, nearsightedness), hearing loss, poor balance (ataxia), nerve problems, epilepsy, memory and thinking problems, thin skin, and tooth decay. Muscle wasting, joint stiffness, and bone cysts also occur. It starts in childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Cataracts and retinitis pigmentosa
- Nearsightedness (myopia)
- Progressive hearing loss
- Poor balance (ataxia)
- Nerve problems (peripheral neuropathy)
- Memory and thinking problems (dementia)
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, eye disease specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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 genes cause it. It is autosomal dominant, which means one changed copy of a gene is enough. GARD doesn't name the gene.
Also known as: cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Flynn-Aird syndrome.
Explore research for Flynn-Aird syndrome
Explore actively recruiting Flynn-Aird syndrome studies with HealthSpark.
Find actively recruiting studies for Flynn-Aird 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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