Adrenomyodystrophy

Definition

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.

Disease data

Classification

Disease

ORPHA code

977

OMIM code

300270

ICD10 code

E27.4

ICD11 code

5A74.Y

*Soruce