Flynn Aird syndrome
Flynn Aird Syndrome
Flynn Aird Syndrome (pronounced: flin air-d sin-drome) is a rare genetic disorder characterized by a variety of symptoms including neurological abnormalities, skin lesions, and eye abnormalities.
Etymology
The syndrome is named after the two doctors, Dr. Flynn and Dr. Aird, who first described the condition in the medical literature. The term "syndrome" is derived from the Greek word "syndromos" which means "running together," referring to the group of symptoms that occur together in this condition.
Symptoms
The symptoms of Flynn Aird Syndrome can vary greatly from person to person. However, common symptoms include:
- Neurological abnormalities: These can include seizures, mental retardation, and ataxia (a lack of muscle control during voluntary movements).
- Skin lesions: These can include hyperkeratosis (thickening of the skin), alopecia (hair loss), and onychodystrophy (abnormal nail growth).
- Eye abnormalities: These can include cataracts, glaucoma, and retinal degeneration.
Causes
Flynn Aird Syndrome is caused by mutations in a gene. The exact gene is currently unknown, but research is ongoing to identify it. The syndrome is inherited in an autosomal recessive manner, meaning both copies of the gene in each cell must have mutations for the individual to be affected.
Diagnosis
Diagnosis of Flynn Aird Syndrome is based on the presence of the characteristic symptoms. Genetic testing may also be used to confirm the diagnosis.
Treatment
There is currently no cure for Flynn Aird Syndrome. Treatment is symptomatic and supportive, and may include medications to control seizures, physical therapy for ataxia, and surgery for eye abnormalities.
See Also
External links
- Medical encyclopedia article on Flynn Aird syndrome
- Wikipedia's article - Flynn Aird syndrome
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