What is the difference between Ehlers-Danlos and Marfan syndrome?

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder associated with the mutation of the FBN1 gene. Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders with similar clinical features to MFS that often requires genetic testing to confirm a diagnosis of an EDS subtype.

Takedown request   |   View complete answer on cureus.com

Is Ehlers-Danlos related to Marfan syndrome?

What Causes the Ehlers-Danlos Syndromes? Like Marfan syndrome, all the Ehlers-Danlos syndrome are caused by a defect in the body's connective tissue. The genetic mutations responsible for the 12 of the 13 forms of Ehlers-Danlos syndromes are due to defects in proteins called collagens or other related proteins.

Takedown request   |   View complete answer on marfan.org

How is Ehlers-Danlos syndrome similar to Marfans syndrome?

Abstract. Ehlers-Danlos syndromes (EDS) and Marfan syndrome (MFS) are multisystemic disorders that primarily affect the soft connective tissues. Both disorders have benefited from recent advances in clinical and molecular characterization, allowing improvements in clinical diagnosis and management.

Takedown request   |   View complete answer on pubmed.ncbi.nlm.nih.gov

What is the common misdiagnosis of Ehlers-Danlos syndrome?

Patients with EDS, especially those with EDS hypermobility type, are often misdiagnosed with conditions such as fibromyalgia, chronic fatigue syndrome, or depression, given the overlap of symptoms and the psychosocial impact they have on the patient.

Takedown request   |   View complete answer on ncbi.nlm.nih.gov

What connective tissue disorder is similar to Marfan syndrome?

Loeys- Dietz syndrome (LDS) is another genetic disorder that shares similarities with Marfan syndrome. It affects proteins called transforming growth factor beta receptor 1 and 2, which are also part of the connective tissue found throughout the body.

Takedown request   |   View complete answer on columbiasurgery.org

Differences in manifestations of Marfan Syndrome, Ehlers-Danlos Syndrome and Loeys-Dietz Syndrome

23 related questions found

What is most commonly associated with Marfan syndrome?

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

Takedown request   |   View complete answer on mayoclinic.org

What disease is associated with Marfan syndrome?

People with Marfan syndrome must be closely followed by their doctor to watch for the following complications: Heart disease, including aortic aneurysms and problems with heart valves. Bone deformities such as scoliosis (a curved spine) or a breastbone that is sunken or sticks out.

Takedown request   |   View complete answer on cdc.gov

What is the mildest form of Ehlers-Danlos?

Hypermobile Ehlers-Danlos syndrome (hEDS) is generally considered the least severe type of EDS, although significant complications, primarily musculoskeletal, can and do occur. The skin is often soft and may be mildly hyperextensible.

Takedown request   |   View complete answer on ncbi.nlm.nih.gov

How do you rule out Ehlers-Danlos syndrome?

Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems.

Takedown request   |   View complete answer on mayoclinic.org

What diseases are related to Ehlers-Danlos syndrome?

Genetic and Rare Diseases Information Center
  • Arthrochalasia Ehlers-Danlos syndrome.
  • Brittle cornea syndrome.
  • Cardiac-Valvular Ehlers-Danlos syndrome.
  • Classical Ehlers-Danlos syndrome.
  • Classical-like Ehlers-Danlos syndrome.
  • Dermatosparaxis Ehlers-Danlos syndrome.
  • Ehlers-Danlos syndrome, dysfibronectinemic type.

Takedown request   |   View complete answer on medlineplus.gov

What is the opposite of Marfan syndrome?

Loeys-Dietz syndrome is a connective tissue disorder that was first described in 2005.

Takedown request   |   View complete answer on hopkinsmedicine.org

How tall is the average person with Marfan syndrome?

Interestingly, the final height of males with MFS is almost identical in different countries: 191.2±8.4 cm in France, 191.4±5.2 cm in Korea (9), and 191.3±9.0 cm (8) in the United States. This is true despite the difference in men's final height in each general population (174.4 vs.

Takedown request   |   View complete answer on nature.com

Do people with Ehlers-Danlos look different?

People who have vascular Ehlers-Danlos syndrome often share distinctive facial features of a thin nose, thin upper lip, small earlobes and prominent eyes. They also have thin, translucent skin that bruises very easily. In fair-skinned people, the underlying blood vessels are very visible through the skin.

Takedown request   |   View complete answer on mayoclinic.org

What is the cousin to Marfan syndrome?

Loeys-Dietz syndrome is a genetic condition of the body's connective tissue. It has some features in common with Marfan syndrome, but it also has some important differences.

Takedown request   |   View complete answer on marfan.org

What are the facial features of Marfan syndrome?

Individuals with Marfan syndrome may have several distinct facial features including a long, narrow skull (dolichocephaly), deep-set eyes (enophthalmos), an abnormally small jaw (micrognathia) that may be recessed farther back than normal (retrognathia), abnormally flat cheek bones (malar hypoplasia), and an abnormal ...

Takedown request   |   View complete answer on rarediseases.org

What is a comorbidity of Ehlers-Danlos syndrome?

The comorbidity burden for patients with Ehlers-Danlos syndrome was unexplored previously. This study showed that the most common comorbidities in Danish patients with Ehlers-Danlos syndrome are gastrointestinal functional disorders, hernias, asthma, pneumonia, and osteoporosis.

Takedown request   |   View complete answer on pubmed.ncbi.nlm.nih.gov

How do you test for Ehlers-Danlos syndrome in Australia?

In Australia, genetic testing is done by a specialist doctor called a Geneticist. To see a geneticist you will need to obtain a specialist referral from your General Practitioner (GP) or treating specialist. A geneticist will review you and your family's medical histories.

Takedown request   |   View complete answer on ehlersdanlosaus.com

Is Ehlers-Danlos inherited from mother or father?

For a child to be affected both parents must pass on an EDS gene. With each pregnancy there is a 25% chance that each child will have the disorder.

Takedown request   |   View complete answer on orthop.washington.edu

What are the 3 main types of EDS?

Hypermobile EDS (hEDS) is the most common type. Other types of EDS include classical EDS, vascular EDS and kyphoscoliotic EDS.

Takedown request   |   View complete answer on nhs.uk

Do people with EDS look younger than they are?

Does EDS Make You Look Young? Yes, Ehlers-Danlos syndrome can make you look younger. The patients with EDS do not have any wrinkles as the collagen is additionally stretchy. This makes their skin soft and young.

Takedown request   |   View complete answer on icliniq.com

Can you have Ehlers-Danlos and not be hypermobile?

Joint hypermobility is observed throughout the body in most types of EDS, but hypermobility may be limited to the hands and feet in some types. Although joint hypermobility is observed across all types of EDS, not everyone with a type of EDS has joint hypermobility.

Takedown request   |   View complete answer on ehlers-danlos.com

Do people with EDS have too much or too little collagen?

Disease Overview

The problems seen in patients with EDS can be due to either the poor strength of collagen. It may alternatively be due to the absence of sufficient amounts of structurally normal collagen. The primary complications seen in EDS involve the skin, muscles, skeleton, and blood vessels.

Takedown request   |   View complete answer on rarediseases.org

What are 3 symptoms of Marfan?

Symptoms of Marfan Syndrome
  • Abdominal pain.
  • Arms, legs, fingers, and toes that are much longer in relation to the rest of the body.
  • Chest that caves in or sticks out.
  • Curvature of the spine.
  • Flat feet.
  • Headaches.
  • Heartbeat that feels like it is skipping a beat, fluttering, or beating too hard or too fast.

Takedown request   |   View complete answer on niams.nih.gov

At what age is Marfan syndrome usually diagnosed?

Marfan syndrome is present at birth. However, you may not be diagnosed until you're a teen or young adult.

Takedown request   |   View complete answer on my.clevelandclinic.org

Does Marfan syndrome affect teeth?

Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems.

Takedown request   |   View complete answer on marfan.org