Flynn-Aird Syndrome
Clinical Features
In 10 members of 5 generations of a family, Flynn and Aird (1965) observed a neuroectodermal syndrome with some similarities to the syndromes of Werner (277700), Refsum (266500), and Cockayne (216400). Features included the following: in the eye, cataracts, atypical retinitis pigmentosa, and myopia; in the ear, bilateral progressive sensorineural hearing loss beginning as early as age 7; in the nervous system, ataxia, peripheral neuritis, epilepsy, elevation of cerebrospinal fluid protein and dementia; in the ectoderm, skin atrophy, chronic ulceration, baldness and striking dental caries; in the skeletal system, cystic changes of bone and joint stiffness.
InheritanceMale-to-male transmission occurred in 3 instances in the family reported by Flynn and Aird (1965), suggesting autosomal dominant inheritance.