National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Arterial tortuosity syndrome

Arterial tortuosity syndrome is a disorder that affects connective tissue (a tissue that provides strength and flexibility to structures throughout the body). It is characterized by blood vessel abnormalities, particularly abnormal twists and turns (tortuosity) of the blood vessels that carry blood from the heart to the rest of the body (the arteries). Other blood vessel abnormalities that may occur in this disorder include constriction (stenosis) and abnormal bulging (aneurysm) of vessels, as well as small clusters of enlarged blood vessels just under the skin (telangiectasia). Other features include:
  • Joints that are either loose and very flexible (hypermobile) or that have deformities limiting movement (contractures)
  • Soft and stretchable skin
  • Long, slender fingers and toes (arachnodactyly)
  • Curvature of the spine (scoliosis)
  • Sunken chest (pectus excavatum) or protruding chest (pectus carinatum)
  • Protrusion of organs through gaps in muscles (hernias)
  • Elongation of the intestines or pouches called diverticula in the intestinal walls

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 (mutations) in the SLC2A10 gene and is inherited in an autosomal recessive fashion.[1] Aneurysms and focal stenoses are corrected with surgery. Many specialists may be needed for the best management of the disorder.[2]

Last updated: 2/21/2017

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.

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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
Craniosynostosis 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 cleft lip and palate
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 cardiomyopathy
Stretched and thinned heart muscle
0001644
Esophagitis
Inflammation of the esophagus
0100633
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Global developmental delay 0001263
Hiatus hernia
Stomach hernia
0002036
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hip dysplasia 0001385
Hypertension 0000822
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Intellectual disability
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 hypotonia
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
Scoliosis 0002650
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Short palpebral fissure
Short opening between the eyelids
0012745
Specific learning disability 0001328
Strabismus
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
Autosomal recessive inheritance 0000007
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Congenital diaphragmatic hernia 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 contracture
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
Micrognathia
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
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Last updated: 7/1/2020

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.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics 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.

Healthcare Resources

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, 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.

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.

Organizations Supporting this 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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Arterial tortuosity syndrome. This website is maintained by the National Library of Medicine.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Arterial tortuosity syndrome. Click on the link to view a sample search on this topic.

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.

  1. Arterial tortuosity syndrome. Genetics Home Reference. January, 2013; http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome.
  2. Callewaert B, De Paepe A & Coucke P. Arterial Tortuosity Syndrome. Gene Reviews. November 13, 2014; http://www.ncbi.nlm.nih.gov/books/NBK253404/.