Flynn-Aird syndrome

Flynn-Aird syndrome is a neuroectodermal disorder that affects several systems in the body, including the nervous, skin, skeletal, and glandular systems. It was described in 10 members over five generations of a single family, highlighting its inherited nature. People with this condition may experience distinct eye problems such as cataracts, retinitis pigmentosa, and myopia. Other systems may also be affected, with symptoms including hearing loss, problems with movement and balance (ataxia), and skin and dental changes. This summary outlines the key characteristics of the syndrome as described in available sources.

Common symptoms include eye abnormalities like cataracts, retinitis pigmentosa, and myopia, as well as sensorineural hearing loss. Other reported signs include ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, and striking dental caries. Additional manifestations can include muscle wasting, joint stiffness, and bone cysts.

Flynn-Aird syndrome is passed down in families through an autosomal dominant pattern. This means that a change in just one copy of the gene responsible can lead to the syndrome. No specific gene has been identified yet, and the exact cause beyond its inheritance pattern remains unclear.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.