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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Adrenal hyperplasia |
Enlarged adrenal glands
|
0008221 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Lipodystrophy |
Inability to make and keep healthy fat tissue
|
0009125 |
| Pituitary adenoma |
Noncancerous tumor in pituitary gland
|
0002893 |
| Round face |
Circular face
Round facial appearance
Round facial shape
[ more ]
|
0000311 |
| Thin skin | 0000963 | |
| Truncal obesity | 0001956 | |
| 30%-79% of people have these symptoms | ||
| Acne | 0001061 | |
| Anxiety |
Excessive, persistent worry and fear
|
0000739 |
| Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
| Depressivity |
Depression
|
0000716 |
| 0000819 | ||
| Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
| Generalized hirsutism |
Excessive hairiness over body
|
0002230 |
| 0000822 | ||
| Hypokalemia |
Low blood potassium levels
|
0002900 |
|
Decreased immune function
|
0002721 | |
| Infertility | 0000789 | |
| Menorrhagia |
Abnormally heavy bleeding during menstruation
|
0000132 |
| Metrorrhagia |
Abnormal uterus bleeding
|
0100608 |
| Nephrolithiasis |
Kidney stones
|
0000787 |
| 0000939 | ||
| Recurrent fractures |
Increased fracture rate
Increased fractures
Multiple fractures
Multiple spontaneous fractures
Varying degree of multiple fractures
[ more ]
|
0002757 |
| 5%-29% of people have these symptoms | ||
| Abdominal pain |
Pain in stomach
Stomach pain
[ more ]
|
0002027 |
| Avascular necrosis |
Death of bone due to decreased blood supply
|
0010885 |
| Bipolar affective disorder |
Bipolar disorder
|
0007302 |
|
Disease of the heart muscle
|
0001638 | |
|
Clouding of the lens of the eye
Cloudy lens
[ more ]
|
0000518 | |
| Generalized hyperpigmentation | 0007440 | |
| Headache |
Headaches
|
0002315 |
| Lethargy | 0001254 | |
| Myopathy |
Muscle tissue disease
|
0003198 |
| Onychomycosis | 0012203 | |
| Premature ovarian insufficiency |
Early menopause
Premature menopause
Premature ovarian failure
[ more ]
|
0008209 |
| Psychosis | 0000709 | |
| Recurrent skin infections |
Skin infections, recurrent
|
0001581 |
| Sleep disturbance |
Difficulty sleeping
Trouble sleeping
[ more ]
|
0002360 |
| Telangiectasia of the skin | 0100585 | |
| Venous thrombosis |
Blood clot in vein
|
0004936 |
| Visual loss |
Loss of vision
Vision loss
[ more ]
|
0000572 |
| Percent of people who have these symptoms is not available through HPO | ||
| Abdominal obesity |
Central obesity
|
0012743 |
| Abnormal fear/anxiety-related behavior | 0100852 | |
| Alkalosis | 0001948 | |
| 0000006 | ||
| 0000007 | ||
| Biconcave vertebral bodies | 0004586 | |
| Ecchymosis | 0031364 | |
| Edema |
Fluid retention
Water retention
[ more ]
|
0000969 |
| Facial erythema |
Blushed cheeks
Blushing
Red face
Red in the face
[ more ]
|
0001041 |
| Hirsutism |
Excessive hairiness
|
0001007 |
| Impaired glucose tolerance | 0040270 | |
| Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
| Kyphosis |
Hunched back
Round back
[ more ]
|
0002808 |
| Mood changes |
Moody
|
0001575 |
| Obesity |
Having too much body fat
|
0001513 |
| Oligomenorrhea |
Light or infrequent menstrual periods
|
0000876 |
| Poor wound healing | 0001058 | |
| Psychotic mentation | 0001345 | |
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ]
|
0003202 |
| Striae distensae |
Stretch marks
|
0001065 |
| Vertebral compression fractures |
Compression fracture
|
0002953 |
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.
