triple-A syndrome


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Related to triple-A syndrome: Klinefelter syndrome, Williams syndrome, Angelman syndrome, Patau syndrome, Turner syndrome, Jacobs syndrome

triple-A syndrome

An autosomal recessive condition (OMIM:231550) characterised by glucocorticoid deficiency, achalasia of the gastric cardia, defective tear formation (alacrima) and often changes of autonomic dysfunction. Over time, many patients develop neurologic disease (e.g., polyneuropathy with sensory, motor and autonomic components; long-tract degeneration; parkinsonism; mild dementia).