People with arterial tortuosity syndrome often look older than their age and have distinctive facial features. The cornea, which is the clear front covering of the eye, may be cone-shaped and abnormally thin (keratoconus). Arterial tortuosity syndrome is caused by alterations (
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|
|Abnormal carotid artery morphology||0005344|
|Aortic root aneurysm||0002616|
Narrowing of an artery
|Congestive heart failure||
Heart failure[ more ]
|Telangiectasia of the skin||0100585|
|30%-79% of people have these symptoms|
Tiredness[ more ]
Stretchable skin[ more ]
Widely spaced eyes[ more ]
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face[ more ]
Central cleft lip and palate
Midline cleft lip/palate[ more ]
|Pulmonary artery stenosis||
Narrowing of lung artery
|5%-29% of people have these symptoms|
Long slender fingers
Spider slender fingers[ more ]
|Avascular necrosis of the capital femoral epiphysis||0005743|
Narrow opening between the eyelids
|Clinodactyly of the 5th finger||
Permanent curving of the pinkie finger
Stretched and thinned heart muscle
Inflammation of the esophagus
Acid reflux disease
Heartburn[ more ]
Dislocation of hip[ more ]
Enlarged and thickened heart muscle
Mental retardation, nonspecific[ more ]
Increased size of skull
Large head circumference[ more ]
Low or weak muscle tone
Nearsightedness[ more ]
|Prematurely aged appearance||
Precociously senile appearance
Loose redundant skin
Redundant skin folds
Sagging, redundant skin[ more ]
Difficulty breathing[ more ]
|Rocker bottom foot||
Rocker bottom feet
Rockerbottom feet[ more ]
Abnormal curving of the spine
Decreased length of nose
Shortened nose[ more ]
|Short palpebral fissure||
Short opening between the eyelids
|Specific learning disability||0001328|
Squint eyes[ more ]
|Percent of people who have these symptoms is not available through HPO|
Abnormal blood clot
|Aortic valve stenosis||
Narrowing of aortic valve
Easy bruising[ more ]
Symptoms present at birth
|Convex nasal ridge||
Polly beak nasal deformity[ more ]
|Downslanted palpebral fissures||
Downward slanting of the opening between the eyelids
|Generalized arterial tortuosity||
Generalized twisted arteries
Decreased muscle tone
Low muscle tone[ more ]
Increased palatal height[ more ]
Loosejointedness[ more ]
Little lower jaw
Small lower jaw[ more ]
|Soft, doughy skin||0001027|
|Telangiectases of the cheeks||0007421|
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.
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 diagnosis should include Loeys-Dietz syndrome, the vascular type of Ehlers-Danlos syndrome (EDS IV) and Marfan syndrome (see these terms).
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.
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.