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|
|Abnormality of the fingertips||0001211|
Autoimmune disorder[ more ]
Water retention[ more ]
|Lack of skin elasticity||0100679|
|Nausea and vomiting||0002017|
|30%-79% of people have these symptoms|
Swallowing difficulty[ more ]
|Telangiectasia of the skin||0100585|
|5%-29% of people have these symptoms|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of abdomen morphology||0001438|
Diagnosis is usually based in the typical symptoms (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasia). Patients usually present at least three of these five main clinical features. Other exams that might help to make a diagnosis include:
Blood exams: A blood sample can be tested for
Skin biopsy: Sometimes doctors take a small sample of skin that is then examined under a microscope in a laboratory.
Additional tests: Along with a blood test and skin biopsy, additional tests to identify lung, heart or gastrointestinal complications may also be conducted. The diagnosis of calcinosis (suspected based on finding the nodules) is confirmed with
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.
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.
Got a Great Research Idea? ‘All of Us’ Wants to Hear It!
January 18, 2018
New NCATS Rare Diseases Research Video
December 27, 2017
Rare Disease Day at NIH on March 1, 2018
December 19, 2017
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. Submit a new question
My mom is dying from this very painful and agonizing disease. She lost both of her legs 4 years ago due to the disease and it has now progressed to her hands, and it's looking as though it's now going to take her hands from her. The pain she bears is very difficult to endure. Is there anything that could help her? See answer
Does CREST syndrome run in families? If a family member is affected, should other members of the family be tested? See answer
Is CREST syndrome genetic? See answer