triple-A syndrome
ICD-10: E27.4MeSH: C536008ORPHA: 869
Overview
autosomal recessive congenital disorder featuring insufficiency of tears, adrenal insufficiency, and esophageal dysfunction
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with triple-A syndrome, sourced from HPO and Orphanet clinical annotations.
Palmoplantar keratodermaFailure to thrive in infancyHypernasal speechWeight lossHypoglycemiaVomitingHypoglycemic seizuresHypotensionIncreased circulating ACTH levelShort statureDecreased circulating cortisol levelAlacrimaAdrenal insufficiencyAchalasiaGeneralized hyperpigmentationFeeding difficulties in infancyCoughImpaired cortisol response to corticotropin releasing hormone stimulation testMicrocephalySensorineural hearing impairmentVisual impairmentOptic atrophyKeratoconjunctivitis siccaIntellectual disabilityAtaxiaHypotoniaHyperreflexiaPes cavusRespiratory insufficiencyDevelopmental regressionMotor axonal neuropathyPlantar hyperkeratosisAbnormality of the hypothenar eminenceCorneal ulcerationDecreased circulating aldosterone concentration
Classification & Codes
ICD-10 Code
E27.4MeSH Code
C536008Orphanet Code
ORPHA:869triple-A syndrome
| ICD-10 | E27.4 |
| MeSH | C536008 |
| Orphanet | ORPHA:869 |
| Treatments | 0 drug(s) |
| Symptoms on record | 35 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO