This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|100% of people have these symptoms|
|Abnormal hypothalamus morphology||
Abnormal shape of hypothalamus
|80%-99% of people have these symptoms|
Abnormal deposits of calcium in the brain
|Enlarged pituitary gland||0012505|
|Intracranial cystic lesion||0010576|
|Neoplasm of the anterior pituitary||0011750|
|30%-79% of people have these symptoms|
|Abnormal visual field test||0030588|
|Central adrenal insufficiency||0011734|
|Central diabetes insipidus||0000863|
|Excessive daytime somnolence||0001262|
|Nausea and vomiting||0002017|
Having too much body fat
|Progressive visual field defects||0007987|
|Slow decrease in visual acuity||
Slow decrease in sharpness of vision
|5%-29% of people have these symptoms|
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
Hearing defect[ more ]
Too much cerebrospinal fluid in the brain
|Increased intracranial pressure||0002516|
Abnormal susceptibility to fractures
Frequent broken bones
Increased bone fragility
Increased tendency to fractures[ more ]
Type 2 diabetes
Type II diabetes[ more ]
|1%-4% of people have these symptoms|
|Abnormality of the frontal bone||
Abnormality of the bone of the forehead
|Abnormality of the nasal bone||0010939|
Mental retardation, nonspecific
Mental-retardation[ more ]
|Postnatal growth retardation||
Growth delay as children
Frequent, severe infections
Increased frequency of infection
Predisposition to infections
Susceptibility to infection[ more ]
|Sudden loss of visual acuity||0001117|
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
The differential diagnosis includes other tumours occurring in this region (pituitary adenomas), infectious or inflammatory processes (eosinophilic granulomas), vascular malformations (aneurysms) and congenital anomalies (Rathke's cleft cysts).
Visit the Orphanet disease page for more information.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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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I underwent surgery for a craniopharyngioma last year. Although my cognitive symptoms are improved, I continue to suffer from hypersomnolence. Can you provide me with information? See answer