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

Complications

• does not appear to shorten life expectancy

Differential diagnosis

• similarities with:
  • Werner syndrome
  • Cockayne syndrome
  • Refsum syndrome

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/136300