What is Marfan Syndrome? - Rubber Grommet Group

Marfan, LDS, VEDS, and some related conditions are serious and complications can be potentially life-threatening. Because of some similarities between conditions, affected people struggle with the same or similar physical problems. It is important to get an early and accurate diagnosis to learn about recommended treatments, be prepared for surgery and take special precautions for physical activity and other situations like pregnancy. Although there is no cure for for these conditions, advances in medical care are helping people live a normal lifespan.

What is Marfan Syndrome?

Marfan syndrome is a life-threatening genetic condition that results in aortic enlargement and affects different parts of the body including the bones, joints, eyes and lungs.

What is Neonatal Marfan Syndrome?

Neonatal Marfan syndrome is a different entity than Marfan syndrome. It has early onset and rapidly progressive features, most seriously related to the heart, lungs, and airways.

What is Loeys-Dietz Syndrome?

Loeys-Dietz syndrome involves aortic enlargement, as well as aneurysms in different areas of the body. It also affects the bones, joints, skin, and internal organs such as the intestines, spleen, and uterus.

What is Vascular Ehlers-Danlos Syndrome (VEDS)?

VEDS is a life-threatening connective tissue condition that affects the arteries, hollow organs, lungs, and other tissues in the body.

What is Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)?

Kyphoscoliotic EDS is a form of Ehlers-Danlos syndrome that is associated with severe hypotonia at birth, delayed motor development, progressive scoliosis (present from birth), vascular fragility and aortic root enlargement.

What is Stickler Syndrome?

Stickler syndrome is a genetic condition that can cause vision, hearing and joint problems. It is the most common cause of retinal detachment in children.

What is Beals Syndrome?

Joint contractures is a key feature of Beals syndrome which inhibits the extension of joints like their fingers, elbows, knees, toes, and hips. Aortic enlargement is also a notable feature.

What is a Bicuspid Aortic Valve?

People with a bicuspid aortic valve have two leaflets instead of three. There is also a tendency for aortic enlargement.

What is Ectopia Lentis Syndrome?

Ectopia lentis syndrome is an inherited connective tissue disorder that shares some of the features of Marfan syndrome – particularly lens dislocation of the eye, which can cause serious vision problems.

What is Ehlers-Danlos Syndrome?

Ehlers-Danlos syndrome is a group of genetic connective tissue condition characterized by unstable, hypermobile joints, loose, "stretchy" skin, and fragile tissues.

What is Familial Thoracic Aortic Aneurysm and Dissection?

Aortic enlargement (dilatation) is generally the first feature of familial thoracic aortic aneurysm and dissection to develop and is due to a genetic predisposition.

What is Mass Phenotype?

People with MASS Phenotype have mitral valve prolapse, nearsightedness, slight aortic enlargement, stretch marks and skeletal features like scoliosis.

What is Shprintzen-Goldberg Syndrome?

Shprintzen-Goldberg syndrome is a genetic condition that have a combination of unique facial features and skeletal and neurological abnormalities.

Key Features of Marfan Syndrome

Key Features of Neonatal Marfan Syndrome

Key Features of Loeys-Dietz Syndrome

Key Features of Vascular Ehlers-Danlos Syndrome (VEDS)

Key Features of Kyphoscoliotic Ehlers-Danlos Syndrome (kEDS)

Key Features of Stickler Syndrome

Key Features of Beals Syndrome

Key Features of Bicuspid Aortic Valve

Key Features of Ectopia Lentis Syndrome

Key Features of Ehlers-Danlos Syndrome

Key Features of Familial Thoracic Aortic Aneurysm and Dissection

Key Features of Mass Phenotype

Key Features of Shprintzen-Goldberg Syndrome

All genetic aortic conditions are serious, potentially life-threatening conditions, and an early, accurate diagnosis is essential. These conditions can shorten lives, particularly when they go unchecked. The can also deeply affect the quality of life of the individuals and families who must cope with them.

A diagnosis can often be made after exams of several parts of the body by doctors experienced with genetic aortic and vascular conditions, including:

We recommend:

Step 1 Find a doctor who is knowledgeable about genetic conditions

A coordinated clinic is the best place to go for Marfan syndrome and related conditions care. A coordinated clinic provides expertise in all Marfan-related specialties: genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints). If there is not a coordinated clinic in your area, we recommend making an appointment with a geneticist or cardiologist because they are usually the specialists with the most expertise in these conditions and can provide appropriate referrals to other necessary specialists.

The Marfan Foundation can help. We have a directory of medical institutions which is comprised of Marfan clinics and aortic centers around the United States. Or you can ask our Help & Resource Center for help in your area.

Download Our Directory of Medical Institutions

Step 2 Compile your health history

A detailed medical and family history, including information about any family member who may have the condition or who had an early, unexplained, heart-related death.

Download the Form

Step 3 Reach out for information and support

We offer many ways for you to receive information and support, both online and in person. We have virtual support groups and special offerings for people of all age groups, including teens and those in our community who are 50+. And our events, such as our Annual Conference and Walks for Victory, provide an opportunity to connect with the greater Marfan and related conditions community. We are here for you. You are not alone.

Ask a Question

Download Our Directory of Medical Institutions

Following your doctor's recommendations for medication, monitoring, and physical activity gives you the best chance of avoiding a serious complication of Marfan syndrome or any of the related conditions. Still, there are no guarantees. That's why it's important for you to learn about the medical problems that could arise and require immediate medical treatment.

The most serious of these problems involve the heart and blood vessels, but there are other problems involving the eyes and lungs that also need emergency treatment.

To help prepare you for these situations, we recommend that you complete our Emergency Preparedness Kit, which we created specifically for people with Marfan syndrome and related conditions. It includes our Emergency Alert Card which you can download and carry in your wallet. You can click below to download them.

EmergencyPreparedness Kit

Emergency Alert Card

Surgeries

MarfanFoundation

Loeys-Dietz Syndrome Foundation

The VEDS Movement

Join us in the fight for victory over Marfan syndrome, Loeys-Dietz, VEDS, and other genetic aortic and vascular conditions. Help us create a world in which everyone with these conditions can live their best life.

MarfanFoundation

Loeys-Dietz Syndrome Foundation

The VEDS Movement

Marfan, Loeys-Dietz (LDS), and Vascular Ehlers-Danlos syndrome (VEDS) are genetic conditions that affect the body's connective tissue and as a result cause weakening of the arteries. Because connective tissue is everywhere, eyes, bones, joints and lungs can also be affected. A diagnosis can often be made after exams of several parts of the body by doctors experienced with genetic aortic and vascular conditions, including: Echocardiogram Electrocardiogram (EKG). An eye examination Other tests