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Disease Information

Summary

This rare genetic disease affects the blood vessels, bones, face, skin, and the immune and digestive systems. Blood vessel problems can include weakened and enlarged arteries (aneurysms) and tears in the artery wall (dissections) in the brain, chest, or abdomen. Bone and joint features can include differences in the chest wall, curvature of the spine, loose joints, long, thin fingers, clubfoot, and abnormalities or instability of the bones in the neck. People may also have facial differences such as wide-spaced eyes, crossed eyes (strabismus), a split or unusually shaped uvula, cleft palate, or early fusion of the bones of the skull (craniosynostosis). The skin may feel soft or velvety, look thin or see-through, bruise easily, and heal with unusual scars. People with this condition have a higher risk of widespread, fast-growing aneurysms and pregnancy-related complications, including uterine rupture. They may also be more likely to develop allergies and inflammation, including asthma, eczema, food allergies, or reactions to environmental triggers. Some people also have inflammation of the digestive tract, such as eosinophilic esophagitis, gastritis, or inflammatory bowel disease. Signs and symptoms vary widely, even among family members with the same genetic change.

About Loeys-Dietz syndrome 1

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:GARD does not currently have information about when this disease may start to appear.
  • Cause:GARD does not currently have information about the cause of this disease.
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.

Resource(s) for Medical Professionals and Scientists on This Disease:

  • ClinGen provides expert-reviewed information on genes and gene variants for use in research and medicine.
  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.

Resource(s) for Medical Professionals and Scientists on This Disease:

  • ClinGen provides expert-reviewed information on genes and gene variants for use in research and medicine.
  • GeneReview provides clinical information on genetic diseases, including diagnosis, treatment, and genetic counseling.
  • MONDO provides GARD with information for this disease.
  • RARe-SOURCE™ offers rare disease gene variant annotations and links to rare disease gene literature.

About Loeys-Dietz syndrome 1

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Symptoms:GARD does not currently have information about when this disease may start to appear.
  • Cause:GARD does not currently have information about the cause of this disease.
  • Organizations:Patient organizations dedicated to this rare disease are available on GARD, or you may contact a GARD Information Specialist for additional information.

Can diseases be passed down from parent to child?

A biological parent can sometimes pass down genetic changes, called mutations, that cause a disease or increase the chances of developing it. This is called inheritance. Knowing if other family members have had the disease, also known as your family health history, can give your medical team important information. The Surgeon General offers a tool to help you collect your family health history.

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

Autosomal Dominant

Autosomal means the gene involved is located on one of the numbered chromosomes. Dominant means that a child only needs to inherit one copy of the mutated gene, from either biological parent, to be affected by the disease.

People affected by an autosomal dominant disease have a 50% chance of passing on the mutated gene to their biological child.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

Symptoms

You may have one or more symptoms, and they may be mild or severe. Having some or all of these symptoms does not mean you have this disease. Only a health care provider can diagnose you.

Common

Many people have these, but not everyone.

  • Abnormality of the sternum (Abnormal sternum morphology)
  • Arterial tortuosity
  • Ascending aortic dissection
  • Bifid uvula
  • Bulge in wall of root of large artery that carries blood away from heart (Aortic root aneurysm)
  • Bulging eye (Proptosis)
  • Chronic fatigue
  • Club feet (Talipes equinovarus)
  • Craniosynostosis
  • Cross-eyed (Strabismus)
  • Dermal translucency
  • Displacement of one backbone compared to another (Spondylolisthesis)
  • Double-Jointed (Joint hypermobility)
  • Downward slanting of the opening between the eyelids (Downslanted palpebral fissures)
  • Drooping upper eyelid (Ptosis)
  • Dural ectasia
  • Extra ribs (Supernumerary ribs)
  • Facial asymmetry
  • Flat feet (Pes planus)
  • Funnel chest (Pectus excavatum)
  • High palate
  • Inguinal hernia
  • Little lower jaw (Micrognathia)
  • Long slender fingers (Arachnodactyly)
  • Low-set ears
  • Obstructive sleep apnea
  • Outward facing eye ball (Exotropia)
  • Patent ductus arteriosus
  • Permanent flexion of the finger or toe (Camptodactyly)
  • Pigeon chest (Pectus carinatum)
  • Poorly developed skeletal musculature (Hypoplasia of the musculature)
  • Prominent ear (Protruding ear)
  • Pulmonary artery aneurysm
  • Receding chin (Retrognathia)
  • Scoliosis
  • Soft skin
  • Stretch marks (Striae distensae)
  • Whites of eyes are a bluish-gray color (Blue sclerae)
  • Wide-set eyes (Hypertelorism)
  • Zygomatic flattening (Malar flattening)

Uncommon

Some people have these, but most people do not.

  • Aortic valve has two leaflets rather than three (Bicuspid aortic valve)
  • Cervical spine instability
  • Chiari malformation
  • Cleft palate
  • Disproportionate tall stature
  • Global developmental delay
  • Mitral valve prolapse
  • Too much cerebrospinal fluid in the brain (Hydrocephalus)

Unknown

We don't have enough information about how common these are.

  • An opening in the wall separating the top two chambers of the heart (Atrial septal defect)
  • Dilatation of the cerebral artery
  • Eosinophilic infiltration of the esophagus
  • Extra little finger (Postaxial hand polydactyly)
  • Intellectual disability
This information comes from the Human Phenotype Ontology (HPO)

Navigating Health Care Decisions

On average, it can take more than six years to receive an accurate diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and patients often need to visit multiple specialists or seek second opinions to get answers.

If a diagnosis remains unclear, visiting a multidisciplinary care center or university hospital may help. These centers bring together teams of specialists who can work together to evaluate symptoms and coordinate a diagnosis. This team-based approach is also helpful after a diagnosis, when managing care for rare diseases.

Because only about 5% of rare diseases have FDA-approved treatments, finding the right healthcare team to manage your symptoms and overall health is essential. People living with rare diseases often face challenges such as delayed diagnosis, limited treatment options, and difficulty accessing knowledgeable providers. Building a care team that understands your needs can make a significant difference in your quality of life.

Your Health Care Team

Why is building the right health care team important?

Building the right health care team is key to the diagnosis, treatment, and management of your long-term health journey living with a rare disease. Start by choosing a primary care provider (PCP). Your PCP will be your main point of contact and help coordinate care with other medical professionals. Your PCP may order tests or refer you to specialists. To find a PCP near you, use the Medicare provider search tool and enter your location and “Primary Care Provider.”

Seeing multiple specialists is important for people with rare diseases because these conditions often affect many parts of the body and require care from doctors with different expertise. Most primary care providers may not be familiar with rare diseases, so involving specialists can lead to a more accurate diagnosis and better care. A coordinated team approach ensures that all symptoms are addressed and that care is well-managed. It can also connect patients with the latest research or treatment options.

These specialists may help in the diagnosis, management, and treatment of Loeys-Dietz syndrome 1:

Vascular medicine specialists are doctors with expertise in diagnosing and managing diseases that affect the blood vessels, including arteries, veins, and lymphatic vessels. They focus on managing rare or complex vascular diseases such as vasculitis, genetic diseases that affect blood vessel formation, or deep vein thrombosis in unusual locations.

Some vascular medicine doctors specialize in non-surgical treatments and may coordinate care with vascular surgeons or interventional radiologists. They may use blood tests, imaging studies like ultrasounds or MRIs, and genetic testing to evaluate vascular problems.

If you or your family members have symptoms like unexplained blood clots, skin ulcers, or fainting episodes, you may benefit from seeing a vascular medicine specialist.                          

You may want to consider bringing a copy of your family medical history and any previous test results to your appointment. Ask your PCP for a referral, or use this directory by the Society for Vascular Surgery to find a vascular medicine specialist in your area. 

Multidisciplinary Care Centers

Is It Time to Get a Second Opinion or Specialized Evaluation?

If you've visited your PCP, met with specialists, and undergone the recommended tests, but are still searching for a diagnosis, it may be time to visit an academic medical center or, for pediatric patients, a children's hospital. Academic medical centers and children's hospitals, often called multidisciplinary care centers, typically bring together specialists from different fields to work together on complex cases like rare diseases.

Multidisciplinary care centers may offer more coordinated care and be involved in clinical research, which may help reduce the time to diagnosis and provide access to emerging diagnostic tools. Specialists at these centers may have a deeper understanding of rare diseases and serve as a resource when you'd like a second opinion, particularly when test results or treatment plans are not delivering expected results.

Find hospitals that may partner with medical schools and programs in your area. 

Rare Disease Experts

How can you find a rare disease expert?

If a diagnosis, care management, or treatment plan remains unclear despite extensive efforts by your PCP and specialists, it may be time to find a rare disease expert for your disease, if available. A rare disease expert is a medical provider that has knowledge or training on specific rare disease(s), but there may only be a few experts in your state, region, or country. Rare disease experts may work at large research or teaching hospitals, sometimes called centers of excellence. Centers of Excellence commit to sharing knowledge and best practices that can lead to improved care and treatment for individuals living with a rare disease. 

You can also contact a GARD Information Specialist for help finding experts, centers of excellence, or clinics that focus on your disease.
You can ask your care providers for help finding an expert or use directory tools to search for experts near you. The following organization(s) may maintain a list of experts or expert centers for people living with Loeys-Dietz syndrome 1:

Find Your Community

How can patient organizations help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources


Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Contact a GARD Information Specialist for more information on organizations that may be dedicated to this disease. Please contact an organization directly if you have questions about the information or resources it provides.


View GARD's criteria for including patient organizations, which can be found under the FAQs on our About GARD page. Request an update or to have your organization added to GARD. 

Patient Organizations

2 Organizations

Loeys-Dietz Syndrome Foundation

People With

Loeys-Dietz syndrome 1

Helpful Links
Country

United States

The Marfan Foundation

People With

Loeys-Dietz syndrome 1

Helpful Links
Country

United States

OrganizationPeople WithHelpful LinksCountry
Loeys-Dietz Syndrome FoundationLoeys-Dietz syndrome 1List of ExpertsUnited States
The Marfan FoundationLoeys-Dietz syndrome 1List of ExpertsUnited States

Participate in Research

Clinical studies are a part of clinical research and play an important role in medical advances for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.

Learn more about clinical trials from this National Institutes of Health webpage.

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or a similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.

What if There Are No Available Clinical Studies?

ResearchMatch helps connect people interested in research studies  with researchers from top medical centers across the United States. Anyone from the U.S. can register with this free program funded by NIH. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate.

Why may you want to consider joining the All of Us Research Program?

The All of Us Research Program is inviting 1 million people from all backgrounds across the U.S. to help build one of the most diverse health databases in history. Researchers will use the data to learn how our biology, lifestyle, and environment affect health. This may one day help them find ways to treat and prevent diseases.

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Search ClinicalTrials.gov for this disease.
GARDGenetic and Rare Diseases
Information Center
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies.
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Sources & References

Last Updated: September 2026