adrenomyodystrophy
MeSH: C538051ORPHA: 977
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 adrenomyodystrophy, sourced from HPO and Orphanet clinical annotations.
MegacystisAbnormality of the urinary systemMegalocorneaSeizureHypotoniaHepatic steatosisFailure to thriveAbnormal intestine morphologyDelayed skeletal maturationMyopathyEMG abnormalityShort statureReduced bone mineral densityGeneralized hyperpigmentationPrimary adrenal insufficiencySevere global developmental delay
Classification & Codes
MeSH Code
C538051Orphanet Code
ORPHA:977adrenomyodystrophy
| MeSH | C538051 |
| Orphanet | ORPHA:977 |
| Treatments | 0 drug(s) |
| Symptoms on record | 16 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO