Flynn-Aird syndrome
Findings
No curated finding names Flynn-Aird syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Flynn-Aird syndrome is a neuroectodermal disorder involving the nervous, cutaneous, skeletal, and glandular systems. It has been described in 10 members from five generations of one family. 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. Flynn-Aird syndrome is transmitted as an autosomal dominant trait. It shows some similarities to the syndromes of Werner, Refsum and Cockayne.
Definition from the Mondo Disease Ontology (MONDO:0007624), read 2026-09-29. CC BY 4.0.
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Dermal atrophyHPOHP:0004334
- Very frequent (80% to 99% of cases)
- MyopiaHPOHP:0000545
- Very frequent (80% to 99% of cases)
- Progressive sensorineural hearing impairmentHPOHP:0000408
- Very frequent (80% to 99% of cases)
- AlopeciaHPOHP:0001596
- Frequent (30% to 79% of cases)
- AphasiaHPOHP:0002381
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- AtherosclerosisHPO
Show the remaining 18
- EEG abnormalityHPOHP:0002353
- Frequent (30% to 79% of cases)
- Impaired pain sensationHPOHP:0007328
- Frequent (30% to 79% of cases)
- Joint stiffnessHPOHP:0001387
- Frequent (30% to 79% of cases)
- KyphosisHPOHP:0002808
- Frequent (30% to 79% of cases)
- Peripheral neuropathyHPOHP:0009830
- Frequent (30% to 79% of cases)
- Rod-cone dystrophyHPOHP:0000510
- Frequent (30% to 79% of cases)