Loeys-Dietz syndrome

Title

Other Names:

Loeys-Dietz aortic aneurysm syndrome; Aortic aneurysm syndrome, Loeys-Dietz type

Categories:

Blood Diseases; Congenital and Genetic Diseases; Lung Diseases; Blood Diseases; Congenital and Genetic Diseases; Lung Diseases; Musculoskeletal Diseases See More

Subtypes:

Loeys-Dietz syndrome type 1; Loeys-Dietz syndrome type 2; Loeys-Dietz syndrome type 4

Summary Summary

Loeys-Dietz syndrome is a connective tissue disorder that causes aortic aneurysms, widely spaced eyes (hypertelorism), cleft palate and/or split uvula (the little piece of flesh that hangs down in the back of the mouth) and twisting or spiraled arteries (arterial tortuosity). Other findings include craniosynostosis, extropia (eyes that turn outward), micrognathia, structural brain abnormalities, intellectual deficit, and congenital heart disease. Signs and symptoms vary among individuals. This condition is inherited in an autosomal dominant manner with variable clinical expression.^[1] This condition is called Loeys-Dietz syndrome type 1 when affected individuals have cleft palate, craniosynostosis, and/or hypertelorism. Individuals without these features are said to have Loeys-Dietz syndrome type 2. The disease is caused by mutations in the TGFBR1, the TGFBR2, the SMAD3 or the TGFB2 genes.^[1] It is important to have an early and adequate treatment for the heart problems because the chance for aortic dissection and other vascular problems may be high in some patients. Many specialists may be involved for the best managment of the patient.

Last updated: 10/2/2015

Symptoms Symptoms

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
Aortic aneurysm	Bulge in wall of large artery that carries blood away from heart	0004942
Aortic dissection	Tear in inner wall of large artery that carries blood away from heart	0002647
Arterial dissection		0005294
Arterial tortuosity		0005116
Ascending tubular aorta aneurysm	Bulging of wall of large artery located above heart	0004970
High palate	Elevated palate Increased palatal height [ more ]	0000218
Hypertelorism	Wide-set eyes Widely spaced eyes [ more ]	0000316
Patent ductus arteriosus		0001643
Pes planus	Flat feet Flat foot [ more ]	0001763
Uterine rupture		0100718
30%-79% of people have these symptoms
Abnormality of the sternum	Sternal anomalies	0000766
Arachnodactyly	Long slender fingers Spider fingers [ more ]	0001166
Ascending aortic dissection		0004933
Atypical scarring of skin	Atypical scarring	0000987
Bifid uvula		0000193
Blue sclerae	Whites of eyes are a bluish-gray color	0000592
Camptodactyly of finger	Permanent flexion of the finger	0100490
Craniosynostosis		0001363
Generalized arterial tortuosity	Generalized twisted arteries	0004955
Joint contracture of the hand		0009473
Joint laxity	Joint instability Lax joints Loose-jointedness Loosejointedness [ more ]	0001388
Malar flattening	Zygomatic flattening	0000272
Proptosis	Bulging eye Eyeballs bulging out Prominent eyes Prominent globes Protruding eyes [ more ]	0000520
Retrognathia	Receding chin Receding lower jaw Weak chin Weak jaw [ more ]	0000278
Scoliosis		0002650
Soft skin		0000977
Striae distensae	Stretch marks	0001065
Talipes equinovarus	Club feet Club foot Clubfeet Clubfoot [ more ]	0001762
Tall stature	Increased body height	0000098
5%-29% of people have these symptoms
Absent distal phalanges	Absent outermost digital bones	0005807
Arnold-Chiari malformation		0002308
Atrial septal defect	Hole in heart wall separating two upper heart chambers An opening in the wall separating the top two chambers of the heart [ more ]	0001631
Bicuspid aortic valve	Aortic valve has two leaflets rather than three	0001647
Bicuspid pulmonary valve		0005182
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Cardiac arrest	Heart stops beating	0001695
Descending thoracic aorta aneurysm		0004959
Dilatation of the cerebral artery		0004944
Disproportionate tall stature		0001519
Global developmental delay		0001263
Hydrocephalus	Too much cerebrospinal fluid in the brain	0000238
Inguinal hernia		0000023
Intellectual disability	Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ]	0001249
Joint dislocation	Joint dislocations Recurrent joint dislocations [ more ]	0001373
Joint hyperflexibility	Joints move beyond expected range of motion	0005692
Mitral valve prolapse		0001634
Osteoporosis		0000939
Pectus carinatum	Pigeon chest	0000768
Pectus excavatum	Funnel chest	0000767
Polydactyly	More than five fingers or toes on hands or feet	0010442
Postaxial polydactyly		0100259
Syndactyly	Webbed fingers or toes	0001159
Thin skin		0000963
Umbilical hernia		0001537
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Brachydactyly	Short fingers or toes	0001156
Camptodactyly	Permanent flexion of the finger or toe	0012385
Dermal translucency		0010648
Eosinophilic infiltration of the esophagus		0410151
Exotropia	Outward facing eye ball	0000577
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Postaxial hand polydactyly	Extra little finger Extra pinkie finger Extra pinky finger [ more ]	0001162
Protrusio acetabuli		0003179
Pulmonary artery aneurysm		0004937
Spondylolisthesis	Displacement of one backbone compared to another Slipped backbone [ more ]	0003302
Spontaneous pneumothorax	Spontaneous collapsed lung	0002108

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 7/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis

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.
Orphanet lists international laboratories offering diagnostic testing for this condition.

Find a Specialist Find a Specialist

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

The The Marfan Foundation has a Directory of Medical Institutions which is comprised of institutions throughout the United States that treat Marfan syndrome and related conditions.

Research Research

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.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Loeys-Dietz syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Orphanet lists European clinical trials, research studies, and patient registries enrolling people with this condition.

Organizations Organizations

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

Loeys-Dietz Syndrome Foundation (US)
PO Box 22468
Baltimore, MD 21203
E-mail: info@loeysdietz.org
Website: http://www.loeysdietz.org/en/
Loeys-Dietz Syndrome Foundation - Canada
4 King, Suite 300
Pointe-Claire, Quebec, Canada
Toll-free: 1-844-505-4800
Telephone: 1-514-505-4800
E-mail: info@loeysdietzcanada.org
Website: http://loeysdietzcanada.org
The Marfan Foundation
22 Manhasset Avenue
Port Washington, NY 11050
Toll-free: 1-800-8-MARFAN (800-862-7326)
Telephone: +1-516-883-8712
Fax: +1-516-883-8040
E-mail: https://www.marfan.org/secure/ask
Website: https://www.marfan.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

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 Loeys-Dietz syndrome. This website is maintained by the National Library of Medicine.
Johns Hopkins has information on Loeys-Dietz syndrome on their Web site. You can click on the link to view this information page.
The National Marfan Foundation has information on Loeys-Dietz syndrome on their Web site. You can click on the link to view this information page.
Loeys-Dietz Syndrome Foundation is a non-profit advocacy organization for this condition, and they provide medical information on their website.

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.
Online Mendelian Inheritance in Man (OMIM)
Online Mendelian Inheritance in Man (OMIM)
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 Loeys-Dietz syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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