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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
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 231550
References
OMIM :accession 231550