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  3. Loeys-Dietz syndrome type 1
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Loeys-Dietz syndrome type 1


Title




Other Names:
Loeys-Dietz syndrome 1
Categories:
Blood Diseases; Congenital and Genetic Diseases; Lung Diseases
This disease is grouped under:
Loeys-Dietz syndrome

Symptoms Symptoms


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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.

Showing of 37 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Ascending tubular aorta aneurysm
Bulging of wall of large artery located above heart
0004970
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ]
0000316
30%-79% of people have these symptoms
Abnormal sternum morphology
Abnormality of the sternum
Sternal anomalies
[ more ]
0000766
Arachnodactyly
Long slender fingers
Spider fingers
[ more ]
0001166
Ascending aortic dissection 0004933
Bifid uvula 0000193
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
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
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ]
0001762
5%-29% of people have these symptoms
Arnold-Chiari malformation 0002308
Bicuspid pulmonary valve 0005182
Disproportionate tall stature 0001519
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
1%-4% of people have these symptoms
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ]
0001631
Global developmental delay 0001263
Patent ductus arteriosus 0001643
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance 0000006
Bicuspid aortic valve
Aortic valve has two leaflets rather than three
0001647
Camptodactyly
Permanent flexion of the finger or toe
0012385
Dermal translucency 0010648
Descending thoracic aorta aneurysm 0004959
Dilatation of the cerebral artery 0004944
Eosinophilic infiltration of the esophagus 0410151
Exotropia
Outward facing eye ball
0000577
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ]
0000347
Mitral valve prolapse 0001634
Postaxial hand polydactyly
Extra little finger
Extra pinkie finger
Extra pinky finger
[ more ]
0001162
Pulmonary artery aneurysm 0004937
Showing of 37 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Diagnosis Diagnosis


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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.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.
  • 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.

Organizations Organizations


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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.

Organizations Supporting this Disease

  • Loeys-Dietz Syndrome Foundation (US)
    PO Box 22468
    Baltimore, MD 21203
    E-mail: info@loeysdietz.org
    Website: https://www.loeysdietz.org/
  • 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


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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

  • 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.
  • Genetics Home Reference (GHR) contains information on Loeys-Dietz syndrome type 1. 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. 
  • !LINK! 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 type 1. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
toolbox
Find out how with the NCATS Toolkit.

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