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||
|80%-99% of people have these symptoms|
Enlarged adrenal glands
|Failure to thrive||
Weight faltering[ more ]
Inability to make and keep healthy fat tissue
Noncancerous tumor in pituitary gland
Round facial appearance
Round facial shape[ more ]
|30%-79% of people have these symptoms|
Excessive, persistent worry and fear
Easy bruising[ more ]
Tiredness[ more ]
Excessive hairiness over body
Low blood potassium levels
Decreased immune function
Abnormally heavy bleeding during menstruation
Abnormal uterus bleeding
Increased fracture rate
Multiple spontaneous fractures
Varying degree of multiple fractures[ more ]
|5%-29% of people have these symptoms|
Pain in stomach
Stomach pain[ more ]
Death of bone due to decreased blood supply
|Bipolar affective disorder||
Disease of the heart muscle
Clouding of the lens of the eye
Cloudy lens[ more ]
Muscle tissue disease
|Premature ovarian insufficiency||
Premature ovarian failure[ more ]
|Recurrent skin infections||
Skin infections, recurrent[ more ]
Trouble sleeping[ more ]
|Telangiectasia of the skin||0100585|
Blood clot in vein
Loss of vision
Vision loss[ more ]
|Percent of people who have these symptoms is not available through HPO|
|Abnormal fear/anxiety-related behavior||0100852|
|Biconcave vertebral bodies||0004586|
Water retention[ more ]
Red in the face[ more ]
Impaired glucose tolerance
|Increased circulating ACTH level||
High blood corticotropin levels
Round back[ more ]
Having too much body fat
Light or infrequent menstrual periods
|Poor wound healing||0001058|
|Skeletal muscle atrophy||
Muscle wasting[ more ]
|Vertebral compression fractures||
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 diagnoses of CD are the causes of CS (see this term).
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.