Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy
Adrenomyodystrophy is an extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic myopathy, hepatic steatosis, severe psychomotor delay, megalocornea, failure to thrive, chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
Features include very common findings: Megacystis, Abnormality of the urinary system, Megalocornea, and Low muscle tone (hypotonia) and others; and common findings: Seizure, Hepatic steatosis, and Delayed skeletal maturation.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 2 | Low muscle tone (hypotonia), Myopathy |
Phenotype severity distribution: 7 very common features, 3 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 9:09 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
Common questions about adrenomyodystrophy
Digestive system
2 |
Hepatic steatosis, Abnormal intestine morphology |
Kidneys and urinary system | 1 | Abnormality of the urinary system |
Brain and nerves | 1 | Seizure |
Growth and development | 1 | Failure to thrive |
Bones and joints | 1 | Delayed skeletal maturation |