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)|
|Abnormality of the gastric mucosa||90%|
|Atypical scarring of skin||90%|
|Nausea and vomiting||90%|
|Abnormality of temperature regulation||50%|
|Abnormality of the pleura||50%|
|Abnormal tendon morphology||7.5%|
|Abnormality of coagulation||7.5%|
|Abnormality of the myocardium||7.5%|
|Abnormality of the pericardium||7.5%|
|Limitation of joint mobility||7.5%|
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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
Workshop on Heritable Disorders of Connective Tissue Sunday, June 4, 1995 -
Tuesday, June 6, 1995
Location: Bethesda, MD
Description: As a result of this workshop, the participants recognized the joint efforts of clinicians, scientists, and patients in maintaining tissue and patient registries.
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases
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
Is mixed connective tissue disorder more common in any ethnic population? See answer
What can my son expect with this disease? He is 27 years old. Is this going to be disabling? See answer
What is the treatment or remedy of mixed connective tissue disorder? See answer
What causes mixed connective tissue disease? Is it genetic? Is it due to environmental exposures? See answer