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|
|Mucoid extracellular matrix accumulation||0200146|
|30%-79% of people have these symptoms|
|Abnormal left ventricular function||0005162|
|Abnormality iris morphology||
Abnormality of the iris
|Ascending aortic dissection||0004933|
Increased heart size[ more ]
|Coronary artery atherosclerosis||
Plaque build-up in arteries supplying blood to heart
|Descending aortic dissection||0012499|
|5%-29% of people have these symptoms|
|Abdominal aortic aneurysm||0005112|
|Abnormal sternum morphology||
Abnormality of the sternum
Sternal anomalies[ more ]
|Aortic root aneurysm||
Bulge in wall of root of large artery that carries blood away from heart
Long slender fingers
Spider fingers[ more ]
|Bicuspid aortic valve||
Aortic valve has two leaflets rather than three
Easy bruising[ more ]
|Carotid artery dilatation||0012163|
|Descending thoracic aorta aneurysm||0004959|
|Dilatation of the cerebral artery||0004944|
Coughing up blood
|High, narrow palate||
Narrow, high-arched roof of mouth
Narrow, highly arched roof of mouth[ more ]
Widely spaced eyes[ more ]
Depleted blood volume
|Patent ductus arteriosus||0001643|
|Peripheral arterial stenosis||0004950|
Flat foot[ more ]
|Prenatal maternal abnormality||0002686|
Receding lower jaw
Weak jaw[ more ]
Increased body height
|Transient ischemic attack||
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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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