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.
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.
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.
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.
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.
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.
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.
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.
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.
Loeys-Dietz syndrome is a connective tissue disorder that was first described in 2005.
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.
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.
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.
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 ...
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.
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.
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.
Hypermobile EDS (hEDS) is the most common type. Other types of EDS include classical EDS, vascular EDS and kyphoscoliotic EDS.
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.
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.
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.
Marfan syndrome is present at birth. However, you may not be diagnosed until you're a teen or young adult.
Many people with Marfan syndrome and some related disorders have narrow jaws and high-arched palates, which can create dental and orthodontic problems.