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 | Learn More: HPO ID |
---|---|---|
80%-99% of people have these symptoms | ||
Abnormal carotid artery morphology | 0005344 | |
Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
Arterial stenosis |
Narrowing of an artery
|
0100545 |
Congestive heart failure |
Cardiac failure
Cardiac failures
Heart failure
[ more ]
|
0001635 |
Telangiectasia of the skin | 0100585 | |
30%-79% of people have these symptoms | ||
Aortic dissection |
Tear in inner wall of large artery that carries blood away from heart
|
0002647 |
0001363 | ||
Fatigue |
Tired
Tiredness
[ more ]
|
0012378 |
Femoral hernia | 0100541 | |
Hyperextensible skin |
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ]
|
0000974 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ]
|
0000316 |
Inguinal hernia | 0000023 | |
Joint hyperflexibility |
Joints move beyond expected range of motion
|
0005692 |
Long face |
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ]
|
0000276 |
Macrotia |
Large ears
|
0000400 |
Median |
Central cleft lip and palate
Midline cleft lip/palate
[ more ]
|
0008501 |
Pulmonary artery stenosis |
Narrowing of lung artery
|
0004415 |
Thin skin | 0000963 | |
5%-29% of people have these symptoms | ||
Arachnodactyly |
Long slender fingers
Spider fingers
[ more ]
|
0001166 |
Avascular necrosis of the capital femoral epiphysis | 0005743 | |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cardiac arrest |
Heart stops beating
|
0001695 |
Cardiorespiratory arrest | 0006543 | |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Coxa valga | 0002673 | |
Coxa vara | 0002812 | |
Dilated |
Stretched and thinned heart muscle
|
0001644 |
Esophagitis |
Inflammation of the esophagus
|
0100633 |
Gastroesophageal reflux |
Acid reflux
Acid reflux disease
Heartburn
[ more ]
|
0002020 |
Global |
0001263 | |
Hiatus hernia |
Stomach hernia
|
0002036 |
Hip dislocation |
Dislocated hips
Dislocation of hip
[ more ]
|
0002827 |
Hip dysplasia | 0001385 | |
0000822 | ||
Hypertrophic cardiomyopathy |
Enlarged and thickened heart muscle
|
0001639 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
|
0001249 | |
Keratoconus |
Bulging cornea
|
0000563 |
Keratoglobus | 0001119 | |
Long palm | 0011302 | |
Macrocephaly |
Increased size of skull
Large head
Large head circumference
[ more ]
|
0000256 |
Malar flattening |
Zygomatic flattening
|
0000272 |
Muscular |
Low or weak muscle tone
|
0001252 |
Myocardial infarction |
Heart attack
|
0001658 |
Myocarditis |
Inflammation of heart muscle
|
0012819 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ]
|
0000545 |
Prematurely aged appearance |
Precociously senile appearance
|
0007495 |
Pyloric stenosis | 0002021 | |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ]
|
0001582 |
Respiratory distress |
Breathing difficulties
Difficulty breathing
[ more ]
|
0002098 |
Respiratory failure | 0002878 | |
Rocker bottom foot |
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ]
|
0001838 |
0002650 | ||
Short nose |
Decreased length of nose
Shortened nose
[ more ]
|
0003196 |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Specific learning disability | 0001328 | |
Cross-eyed
Squint
Squint eyes
[ more ]
|
0000486 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal thrombosis |
Abnormal blood clot
|
0001977 |
Aortic regurgitation | 0001659 | |
Aortic tortuosity | 0006687 | |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
0000007 | ||
Bruising |
Bruise easily
Easy bruisability
Easy bruising
[ more ]
|
0000978 |
0000776 | ||
Congenital onset |
Symptoms present at birth
|
0003577 |
Convex nasal ridge |
Beaked nose
Beaklike protrusion
Hooked nose
Polly beak nasal deformity
[ more ]
|
0000444 |
Cutis laxa |
Loose and inelastic skin
|
0000973 |
Downslanted palpebral fissures |
Downward slanting of the opening between the eyelids
|
0000494 |
Flexion |
Flexed joint that cannot be straightened
|
0001371 |
Generalized arterial tortuosity |
Generalized twisted arteries
|
0004955 |
Generalized hypotonia |
Decreased muscle tone
Low muscle tone
[ more ]
|
0001290 |
High palate |
Elevated palate
Increased palatal height
[ more ]
|
0000218 |
Ischemic stroke | 0002140 | |
Joint laxity |
Joint instability
Lax joints
Loose-jointedness
Loosejointedness
[ more ]
|
0001388 |
Long philtrum | 0000343 | |
Little lower jaw
Small jaw
Small lower jaw
[ more ]
|
0000347 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pectus excavatum |
Funnel chest
|
0000767 |
Soft, doughy skin | 0001027 | |
Telangiectases of the cheeks | 0007421 | |
Umbilical hernia | 0001537 | |
Ventricular hypertrophy | 0001714 |
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
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The differential diagnosis should include Loeys-Dietz syndrome, Ehlers-Danlos syndromes (particularly the vascular-like classical Ehlers-Danlos syndrome), Marfan syndrome, occipital horn syndrome, and autosomal recessive cutis laxa (particularly the EFEMP2-, FBLN5-, and LTBP4-related Cutis laxa.
Visit the
Orphanet disease page
for more information.
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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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