achalasia-addisonianism-alacrima syndrome (AAA syndrome, triple-A syndrome, Allgrove syndrome)

Pathology

• ACTH-resistant adrenal failure
• achalasia of the esophageal cardia
• alacrima
• variable & progressive neurological impairment involving the central, peripheral, & autonomic nervous system

Genetics

• autosomal recessive
• associated with defects in aladin gene

Clinical manifestations

• variable & progressive neurological impairment
• palmoplantar hyperkeratosis
• short stature
• facial dysmorphy
• osteoporosis

More general terms

• genetic syndrome (multisystem disorder)

Database

• OMIM: https://mirror.omim.org/entry/231550