Flynn-Aird syndrome
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.
MONDO:0019117
obsolete genetic nervous system disorder (obsolete MONDO:0019117)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0019303
premature aging syndrome
is_a
Flynn Aird syndrome
related
Flynn-Aird syndrome
exact
cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental
related