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Flynn-Aird syndrome
Epidemiology:
- rare
Pathology:
- defects in the nervous system, auditory system, skeletal system, visual system, & endocrine system
Genetics:
- autosomal dominant
Clinical manifestations:
- symptoms occur 10-20 years of age
- early-onset dementia
- ataxia
- muscle wasting
- skin atrophy
- eye abnormalities
- cataracts, retinitis pigmentosa, myopia
- dental caries
- peripheral neuropathy
- epilepsy
- chronic ulceration
- baldness
- deafness: progressive sensorineural hearing loss
- cystic bone changes
Differential diagnosis:
- similarities with:
- Werner syndrome
- Cockayne syndrome
- Refsum syndrome
Complications:
- does not appear to shorten life expectancy
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 136300
References
- Wikipedia: Flynn-Aird syndrome
https://en.wikipedia.org/wiki/Flynn%E2%80%93Aird_syndrome