National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Flynn Aird syndrome



Other Names:
Cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental; Flynn-Aird syndrome
Categories:

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2047

Definition
A rare neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. Clinical manifestations include eye abnormalities (cataracts, retinitis pigmentosa, and myopia), sensorineural deafness, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy and striking dental caries. Patients also present with muscle wasting, joint stiffness and bone cysts.

Visit the Orphanet disease page for more resources.
Last updated: 4/1/2006

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Dermal atrophy
Skin degeneration
0004334
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
0000545
Progressive sensorineural hearing impairment 0000408
30%-79% of people have these symptoms
Alopecia
Hair loss
0001596
Aphasia
Difficulty finding words
Losing words
Loss of words
[ more ]
0002381
Ataxia 0001251
Atherosclerosis
Narrowing and hardening of arteries
0002621
Bone cyst
Bone cysts
0012062
Cachexia
Wasting syndrome
0004326
Cataract
Clouding of the lens of the eye
Cloudy lens
[ more ]
0000518
Dementia
Dementia, progressive
Progressive dementia
[ more ]
0000726
Developmental regression
Loss of developmental milestones
Mental deterioration in childhood
[ more ]
0002376
EEG abnormality 0002353
Impaired pain sensation
Decreased pain sensation
0007328
Joint stiffness
Stiff joint
Stiff joints
[ more ]
0001387
Kyphosis
Hunched back
Round back
[ more ]
0002808
Rod-cone dystrophy 0000510
Scoliosis 0002650
Seizure 0001250
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting
[ more ]
0003202
Skin ulcer
Open skin sore
0200042
5%-29% of people have these symptoms
Abnormality of movement
Movement disorder
Unusual movement
[ more ]
0100022
Abnormality of the thyroid gland
Thyroid abnormality
0000820
Carious teeth
Dental cavities
Tooth cavities
Tooth decay
[ more ]
0000670
Cerebral calcification
Abnormal deposits of calcium in the brain
0002514
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Primary adrenal insufficiency 0008207
Type II diabetes mellitus
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ]
0005978
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ]
0000505
Percent of people who have these symptoms is not available through HPO
Alopecia of scalp
Pathologic hair loss from scalp
Scalp hair loss
[ more ]
0002293
Autosomal dominant inheritance 0000006
Hyperkeratosis 0000962
Increased bone density with cystic changes 0005700
Increased CSF protein 0002922
Kyphoscoliosis 0002751
Osteoporosis 0000939
Peripheral neuropathy 0009830
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease


These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Flynn Aird syndrome. Click on the link to view a sample search on this topic.

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