The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
| Signs and Symptoms | Approximate number of patients (when available) |
| Hypercortisolism | 90% |
| Round face | 90% |
| Thin skin | 90% |
| Truncal obesity | 90% |
| Abnormality of the menstrual cycle | 50% |
| Behavioral abnormality | 50% |
| Bruising susceptibility | 50% |
| Diabetes mellitus | 50% |
| Hypertension | 50% |
| Hypertrichosis | 50% |
| Muscle weakness | 50% |
| Nephrolithiasis | 50% |
| Reduced bone mineral density | 50% |
| Meningioma | 7.5% |
| Adult onset | - |
| Agitation | - |
| Anxiety | - |
| Autosomal dominant inheritance | - |
| Decreased circulating ACTH level | - |
| Depression | - |
| Increased circulating cortisol level | - |
| Kyphosis | - |
| Macronodular adrenal hyperplasia | - |
| Mental deterioration | - |
| Mood changes | - |
| Neoplasm | - |
| Osteopenia | - |
| Osteoporosis | - |
| Primary hypercorticolism | - |
| Psychosis | - |
| Skeletal muscle atrophy | - |
| Sporadic | - |
| Striae distensae | - |
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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