Ehlers-Danlos syndrome, Classic type (type I)

It is very difficult to make general statements about symptoms of Ehlers-Danlos syndrome (EDS). EDS is a group of several, related disorders, but these disorders are different. Also, people with the same subtype of EDS and even people in the same family can have very different symptoms. All of the symptoms you read about occurring in EDS will not apply to individual people. Every person is unique and the way the disorder will appear and progress will be unique as well.

People with EDS are encouraged to talk to their physician and medical team about their diagnosis and their prognosis. A genetic counselor or metabolic geneticist can provide information on your specific genetic changes and how they related to your EDS diagnosis. A listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

Ehlers-Danlos syndrome (EDS) is considered an invisible disorder. An invisible disorder is a chronic illness that can affect a person’s daily life, but might not be obvious to people unfamiliar with the disorder. EDS can significantly affect the day-to-day activities of a person. Chronic pain and fatigue are very common. However, to an onlooker people with EDS appear healthy. Elastic skin and loose joints are not obvious to most people. Even after explaining EDS to someone that person may state, "But you don’t look sick." People with EDS are encouraged to contact others with the disorder to talk about how to best handle these situations and how to best share with people that they have a chronic illness. Support groups, including the Ehlers-Danlos Society, are trying to increase awareness of the disorder so EDS is less of an invisible disorder. These groups also provide advice on how to deal with living with an invisible illness.

Everyone has two copies of the most of their genes including the ones associated with EDS. They receive one gene from their fathers and the other of the pair from their mothers. Autosomal dominant inheritance means that a person receives one nonworking copy of the gene in question. With autosomal dominant inheritance, the one nonworking copy of the gene is sufficient to cause symptoms of the disorder. Autosomal recessive inheritance means that a person receives a nonworking copy of the gene in question from both parents.

In a family with an autosomal recessive form of EDS, tests can be done to see whether other family members are carriers for the disorder. (Carriers do not have symptoms and have one working and one non-working copy of the gene in question.) However, the specific gene changes in that family needs to be known. If known, all siblings and other at-risk relatives can be tested. Molecular genetic testing, which are tests that look for changes to genes, can be performed. A newborn child in a family with a history of EDS can be tested through molecular genetic testing.

In autosomal dominant forms of EDS, the disorder can occur spontaneously in a child and neither parent will have a mutation in the gene in question. However, sometimes a parent is undiagnosed due to mild symptoms. Molecular genetic testing can be done to identify an affected parent. If a parent is found to have a pathogenic mutation, then any first degree relatives like brothers or sisters should also be tested.

A genetic counselor or a physician with experience in EDS can provide advice about how a confirmed diagnosis can affect other family members. Medical geneticists can be found through the American College of Medical Geneticists website and a genetic counselor can be found through the National Society of Genetic Counselors website.

Support groups can put you in contact with other people or families that have Ehlers-Danlos syndrome (EDS). Support groups for EDS include the Ehlers-Danlos Society, Ehlers-Danlos Support UK, and the Ehlers-Danlos Syndrome Network C.A.R.E.S. Foundation.

There are also online communities for rare disorders such as RareConnect, RareShare, or Inspire, which allow individuals and parents to share experiences and advice about dealing with rare disorders.

The medical cost of Ehlers-Danlos syndrome (EDS) can be significant. Some families lack the resources necessary to provide for a chronically ill child. There are several organizations that provide financial assistance.

The Social Security Administration provides disability benefits for people who qualify. EDS is not listed in the publication called the Disability Evaluation Under Social Security, also called the “Blue Book.” However, people with EDS may still qualify for assistance if they have certain symptoms that qualify.

The National Organization for Rare Disorders has links to organizations that can provide financial assistance.

The National Human Genome Research Institute has extensive information on finding financial aid for medical treatment and services.

There are several tests that may be used to help a doctor make a diagnosis of Ehlers-Danlos syndrome (EDS). Initially, however, a doctor will do a complete physical examination and talk about a patient and family’s medical history. A physical examination can reveal elastic skin that be stretched more than normal, loose joints that can move farther than normal, and widened scars on the skin because of fragile skin that is easily damaged. These three findings should strongly hint to a diagnosis of EDS, particularly the classic or hypermobility forms. A history of unexpected tearing or rupturing of blood vessels, along with other symptoms, can suggest a possible diagnosis of the vascular type.

A specific test used to help diagnose EDS is a skin biopsy. This involves taking a small sample of skin tissue and examining it under a microscope to look for characteristic changes that suggest EDS. Biochemical analysis can also be performed on a skin biopsy. Doctors may take cells from the skin called fibroblasts and study them to see how much of certain types of collagen is present, how the collagen moves (migrates) and how the collagen functions. Biochemical analysis can show a deficiency in collagen or how it functions. Some people may have their heart assessed with an echocardiogram. This is a test that uses sound waves to produce an image of the heart.

Molecular genetic testing can also be used to confirm a diagnosis. These tests involve studying one of the genes known to cause EDS for changes (mutations) in that gene. This can include sequence analysis, where a part or sequence of DNA within a gene is examined or gene-targeted deletion/duplication analysis, where missing or extra regions of DNA are looked for within a specific gene. Molecular genetic testing must be done at specialized laboratories.

Talk to your doctor about what the results of these tests may mean in EDS. To find a genetic medical professional nearby who can discuss information and testing, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

People with Ehlers-Danlos syndrome (EDS) require periodic checkups or exams to monitor their health. They will be checked to see how well treatment is working, whether the disease has progressed or gotten better, or they will be checked for the possible development of new symptoms.

Rare diseases that affect multiple organ systems can benefit from a multidisciplinary approach. This approach involves healthcare professionals with specialized skills and expertise. They work together to make treatment recommendations and to provide quality care of individuals and families. Depending upon the specific symptoms in an individual multidisciplinary team may require a specialist for managing fragile and damage skin (dermatologist); specialists who treat and monitor connective tissue disorders (rheumatologists); a specialist who can monitor and treatment problems of the muscles, joints, and skeleton (orthopedist); a heart and blood vessel specialist (cardiologist) who will monitor and treat the cardiovascular system; an eye doctor (ophthalmologist) who can periodically check for cataracts; a psychiatrist to monitor and treat emotional or behavior problems; a genetic counselor who can help people understand the disease and the implications for the person and other family members, a metabolic disease specialist, a specialist in digestive disorders (gastroenterologist), physiotherapists, occupational therapists, and nutritionists.

The gene or genes that cause Ehlers-Danlos syndrome (EDS), hypermobility type are unknown. Researchers are trying to find out which gene or genes cause the disorder.

Ehlers-Danlos syndrome (EDS) is a group of related, but distinct, genetic disorders. They affect connective tissue. Connective tissue is the material between the cells of the body that connects, supports, binds or separates other tissue or organs. It gives skin and blood vessels strength and elasticity. A structural protein called collagen is one of the major components in connective tissue. People with EDS have an unexpected change in one of the genes that is important in producing or processing collagen. Because of these gene changes, they do not produce or process collagen properly and their connective tissue does not develop in the right way. There are six major subtypes of EDS. They are related, but separate disorders. Symptoms that are common to all types include loose skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints in EDS are usually prone to popping out of place (dislocation) and chronic pain. Each subtype may have additional symptoms; some subtypes can have severe symptoms like hearts problems or the risk of blood vessels rupturing spontaneously. The severity and symptoms of EDS can be very different among affected people. This is true even among people with the same subtype or people in the same family. EDS is caused by a gene change (mutation) in one of several different genes.

Ehlers-Danlos syndrome is caused by gene changes in one of more than 12 genes. People have about 20,000-25,000 genes in their bodies. Our genes contain our body’s genetic information, called DNA; genes are segments of DNA found on chromosomes. Genes are inherited from our parents and passed on to our children. Genes are like our body’s instruction manual – they control the growth, development and normal function of the body. Genes produce specific proteins that the body needs to grow and work properly. When there is an unexpected change in a gene, the protein that the gene produces may be absent or not work properly.

To find a medical professional nearby who can discuss information about gene changes in EDS, a listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.

A child with Ehlers-Danlos syndrome (EDS) can demand a lot of time and focus from parents. Although studies have shown that siblings of children with chronic illness tend to develop strong levels of compassion and empathy, these studies have also shown that siblings can develop feelings of jealousy and anger and high levels of anxiety. It is possible for healthy siblings to feel as if they have been pushed aside when parents focus more of their efforts on their child with a chronic illness. Parents should encourage healthy siblings to discuss their concerns and feelings about living with a sibling with a chronic illness. It is important for parents to acknowledge and address these concerns with their healthy children. Healthy siblings can feel more included in the family structure when they help with the care of their sick sibling. Parents are encouraged to make time for activities specifically for healthy siblings. Some siblings may benefit from support outside of the immediate family, such as meeting with a therapist.

The Sibling Support Project is a nonprofit organization that serves the concerns and needs of siblings of people with special health, developmental, and mental health needs. There are also regional support groups for siblings of children with serious health conditions. Your child’s pediatrician or your local hospital may be able to tell you if this type of support group is available in your area.

In people with Ehlers-Danlos syndrome (EDS), vascular type the skin may be thin and translucent, which means the skin is so pale that it almost seems as if you can see through it. The veins underneath the skin can be easily seen. The skin can be stretched easily, but not as much as in other forms of EDS. The skin is also very fragile and will bruise easily. Some small joints may be loose or flexible, meaning that people can move or flex them farther than normal. Larger joints are usually not affected.

EDS, vascular type can have severe, even life-threatening complications. These complications include a risk of a rupture or tear in blood vessels or the walls of an organ. This can cause life-threatening internal bleeding. The aorta (the main artery of the body) and the arteries of the large bone of the pelvis (ilium), spleen, and kidneys are most commonly affected. Certain mid- to large-sized blood vessels in the intestines may be prone to rupturing leading to severe internal bleeding. There may be sudden, sharp (acute) pain in the abdomen or flank, which may be caused by a rupture of blood vessels in the abdomen or intestines. This requires immediate medical attention.

Pain can be a major issue for people with EDS and many individuals require treatment with opiate medications.

People may develop abnormal connections between arteries and veins called fistulas, which can cause serious complications. Some people may develop an aneurysm, which is a bulging outward of the wall of a blood vessels. An aneurysm can potentially rupture, which can cause life-threatening complications. EDS, vascular type can also cause blood and gas to build up in the chest cavity, which can cause the lungs to collapse.

Some people may have keratoconus, a condition in which the cornea of the eye is abnormally cone-shaped. The cornea is the clear membrane that covers the front of the eyes. Keratoconus can cause issues with vision. Gum disease including thinning and regression of the gums can occur.

Doctors will develop a plan to monitor and treatment individuals at risk of serious complications of EDS, vascular type. Patients and families should talk to their doctors and entire medical team about their or their children’s specific situation and potential symptoms.

The main symptoms of Ehlers-Danlos syndrome (EDS), kyphoscoliosis form are abnormal curving of the spine (kyphoscoliosis), joint hypermobility and skin abnormalities. Kyphoscoliosis may be present at birth or within the first year of life. The spine may curve to the side and also outward so that the back is rounded. Kyphoscoliosis may be progressive so that the degree of the curving may worsen.

People with this disorder may have loose joints that have an unusually large range of motion. This means that they can move their joints farther than most people can. They are extremely flexible and may be double jointed. The skin may be elastic so that people can stretch their skin away from their body, although it will snap back into place. The skin is also soft and fragile so that it bruises and tears easily. The skin does not heal well and thin scars often develop.

Infants often have severe hypotonia from birth. Hypotonia means low muscle tone and these infants may be described as being ‘floppy’. The lack of muscle tone may cause delays in reaching certain developmental milestones like walking. The eyes can also be affected and some individuals will have a small cornea, the transparent layer in front of the eyes, bluish discoloration of the sclera (the whites of the eyes), and a severe form of nearsightedness called high myopia, which can increase the risk of retinal detachment or glaucoma. The eyes may be fragile and minor trauma can cause rupturing of the sclera or cornea, or detachment of the retina.

Mitral valve prolapse is also common. This condition occurs when one of the flaps of the mitral valve of the heart collapses backward (prolapses) potentially allowing blood to leak or backflow from one chamber of the heart into another. Some people with EDS, kyphoscoliosis type may be at risk for a severe complication in which the blood vessels rupture without warning. Adults with severe kyphoscoliosis may be at risk for severe complications including recurrent pneumonia, restrictive lung disease, and heart failure.

People with EDS, kyphoscoliosis type are described as having a ‘marfanoid’ appearance. This refers to a different connective disorder called Marfan syndrome. People with this disorder have a distinct body type and shape. They tend to be tall and slender with long fingers, toes, hands, feet, arms and legs. They also tend to have flat fleet and overcrowding of the teeth. Pain can be a major issue for people with EDS and many individuals require treatment with opiate medications.

Individuals with Ehlers-Danlos syndrome (EDS), dermatosparaxis type have extremely fragile skin that bruises easily. The skin can be stretched farther than normal. Individuals may have saggy, redundant skin. The skin may be described as having a ‘doughy’ texture. Skin on the face may have multiple folds. Hernias, in which certain tissues or organs push through tears or weakened areas in the surrounding membranes, tissue or skin are common. Some people may have a bluish color to the whites of their eyes.

People with the classic type of Ehlers-Danlos syndrome (EDS) have loose joints that have an unusually large range of motion. This means that they can move their joints farther than most people can. They are extremely flexible and can be double jointed. They may be prone to sprains or dislocations of certain joints. A dislocation is when a joint pops out place. People with EDS, classic type may experience pain in their joints and can develop osteoarthritis at a young age. Osteoarthritis is a degenerative condition of the joints that causes pain, stiffness and limitation of range of movement, and wearing away of the affected joint. Pain can be a major issue for people with EDS and many individuals require treatment with opiate medications.

In EDS, classic type, the skin may be soft, velvety, and ‘elastic’. People may be able to stretch their skin away from their body, although it will snap back into place. Their skin may be very fragile and tend to bruise or tear easily. They may tend to scar and wounds on the skin may heal slowly. Some people with have small growths or bumps called molluscoid pseudotumours. These fleshy growths usually develop over pressure points like the elbows or knees.

Infants and children may have low muscle tone, called hypotonia; they may be described as unusually ‘floppy’. This may cause delays in reaching developmental milestones that require motor skills such as sitting up or walking. Muscle cramps and fatigue are common.

Although less common, there can be cardiovascular problems such as mitral and tricuspid valve prolapse, aortic root dilatation, and spontaneous rupturing of large arteries. The mitral and tricuspid valves are valves of the heart. Mitral and tricuspid valve prolapse is when one of the flaps of the mitral or tricuspid valve collapse backward (prolapse) potentially allowing blood to leak or backflow from one chamber of the heart to another. Aortic root dilatation is the abnormal widening of the opening where the aorta and heart connect. Some people with EDS, classic type may be at risk for spontaneous rupturing of large arteries, a serious life-threatening complication. Doctors will develop a plan to monitor and treat people at risk for these serious cardiovascular complications.

The overall severity and symptoms of EDS, classic type can be very different among people with the disorder. You should speak to your or your child’s physician and medical team about your specific situation.

Symptoms of Ehlers-Danlos syndrome (EDS), arthrochalasia type are usually present at or shortly after birth. Infants have very loose joints that can move farther than normal. They experience frequent full or partial dislocations of their joints. Some newborns have dislocated hips at birth. A dislocation is when a joint pops out of place. Dislocation of the joints can be a recurring problem. The elbows, knees, hips and feet are frequently affected. Dislocations are painful and pain can be a major issue for people with EDS and many individuals require treatment with opiate medications. Infants may also have hypotonia, which is diminished muscle tone so that the infant appears ‘floppy’. The spine may be abnormally curved sideways (scoliosis), fractures are common because of reduced bone mass, and children may be shorter than their peers as they grow older. The common skin symptoms of EDS also occur including skin that stretches farther than normal and skin that is fragile and bruises easily. Scarring of the skin is also common.

Ehlers-Danlos syndrome (EDS) is not one disorder. It is a group of similar, yet distinct disorders. The symptoms can be different among these disorders. This is true even for people with the same subtype of EDS and even members of the same family who can have very different symptoms. Generally, EDS affects the joints and skin.

People with EDS often have loose joints that have an unusually large range of motion. This means that they can move their joints farther than most people can. They may be extremely flexible or double jointed. They may be prone to sprains or dislocations of certain joints. A dislocation is when a joint pops out place. People with EDS may experience pain in their joints and can develop osteoarthritis at a young age. Osteoarthritis is a degenerative condition of the joints that causes pain, stiffness and limitation of range of movement, and wearing away of the affected joint. Pain can be a major issue for people with EDS and many individuals require treatment with opiate medications.

In EDS the skin may be soft, velvety, and ‘elastic’. People may be able to stretch their skin away from their body, although it will snap back into place. Their skin may be very fragile and tend to bruise or tear easily. The skin may tend to scar and wounds on the skin may heal slowly. Infants and children may have low muscle tone, called hypotonia; they may be described as unusually ‘floppy’. Hypotonia can cause delays in reaching developmental milestones that require motor skills such as sitting up or walking. Muscle cramps and fatigue are common.

Cardiovascular problems such as mitral and tricuspid valve prolapse, aortic root dilatation, and spontaneous rupturing of large arteries can occur in EDS, particularly in the vascular subtype and to a lesser degree, in the classic and kyphoscoliosis subtypes. The mitral and tricuspid valves are valves of the heart. Mitral or tricuspid valve prolapse is when one of the flaps of the mitral or tricuspid valve collapse backward (prolapse) potentially allowing blood to leak or backflow from one chamber of the heart to another. Aortic root dilatation is the abnormal widening of the opening where the aorta and heart connect. Some people with EDS may be at risk for spontaneous rupturing of large arteries, a serious life-threatening complication. Doctors will develop a plan to monitor and treat people at risk for serious cardiovascular complications.

The overall severity and symptoms of EDS can be very different among people with the disorder. You should speak to your or your child’s physician and medical team about your or your child’s specific situation.

The main symptom of Ehlers-Danlos syndrome (EDS), hypermobility type are joints that have an unusually large range of motion. This means people can move their joints farther than other people can. They may be described as having loose joints or being double jointed. They may have repeated partial or full dislocations of the affected joints. Dislocations are when a joint pops out of place. These dislocations may happen for no reason (spontaneously or because of minor trauma. Degenerative joint disease is common. Chronic pain (in addition to the pain associated with joint disease) is common. Pain can be a major issue for people with EDS and many individuals require treatment with opiate medications. Some people may have fragile skin that bruises or tears easily. Their skin may be elastic and can be stretched away from the body, although it will snap back into place. The skin symptoms can be very mild in some people, and very pronounced in other people.

The gastrointestinal system (the mouth, esophagus, stomach and intestines) is commonly affected in EDS, hypermobility type. People can develop functional bowel disorders like irritable bowel syndrome. Gastroesophageal reflux and gastritis, or inflammation of the lining of the stomach, are commonly seen. Cardiovascular symptoms can sometimes occur as well.

After a diagnosis of Ehlers-Danlos syndrome (EDS) is confirmed, families should seek a medical consultation with a physician such as a metabolic genetic specialist with experience in treating the disorder. Supports groups such as the Ehlers-Danlos Society, Ehlers-Danlos Support Group, and the Ehlers-Danlos Syndrome Network C.A.R.E.S. Foundation can sometimes provide referrals to physicians or medical centers with experience in treating these disorders. People diagnosed with EDS will go through a series of tests to see how far along the disorder is. These tests will tell a physician what parts of the body are affected and to what extent. Other initial steps will depend on how the disorder is affecting a person. Families should see a genetic counselor to help understand the genetic aspects of this disorder.

No. Ehlers-Danlos syndrome is not one of the disorders that is screened for at birth.

As of July 2016, there are 24 studies that are associated with Ehlers-Danlos syndrome (EDS) listed on clinicaltrials.gov, a government website that provides regularly updated information about federally and privately supported clinical trials. This may not an exhaustive list of current research. Current studies are looking at a patient education program, obstructive sleep apnea in EDS, mind-body therapy for pain, and several treatments including different ways to perform hematopoietic stem cell transplantation.

For the most up-to-date list, contact clinical trials.gov and search for Ehlers-Danlos syndrome.

There is no cure for Ehlers-Danlos syndrome (EDS) in 2016. There are several treatments used to help reduce or manage the health problems seen in EDS. However, because EDS is not just one disorder, but several distinct disorders, treatment options will be very different among affected individuals. This is true even for people with the same diagnosis. Common treatment options are braces, canes or other devices that can help support joints, pain medications, physical and occupational therapy, and wearing protective clothing or gear particularly over pressure points like the elbows or knees. Surgery may be recommended to treat specific complications like the curvature of the spine or certain cardiovascular problems. There are also several new treatments being tried in research studies that could work in EDS, but there is no FDA-approved therapy of this kind at this time.

Yes. People with Ehlers-Danlos syndrome (EDS) are more likely to get temporomandibular joint disease, or TMJ, than people who do not have the disorder. EDS is caused by problem in creating or processing collagen, the major structural protein in the body. This affects the connective tissue, which is the tissue that connects, supports, binds, or separates other tissues or organs. Sometimes, the neck and jaw are affected and people may get TMJ, which primarily affects the joints of the jaws. It can cause chronic, severe headaches and significant pain. The temporomandibular joint, which connects the jaws to the skull, can pop out of place (dislocate) and extremely painful condition.

Patients should talk to their doctors and entire medical team about TMJ and EDS. It’s best to seek referral to a specialist who is experienced in treating TMJ in people with EDS.

Special care needs to be taken for people with Ehlers-Danlos syndrome (EDS) when they have surgery, including dental procedures. Because they have fragile skin and injury or surgical incision is at risk of tearing during or after surgery. Special consideration and care is required before, during and after surgery. People with EDS should talk to doctor and medical team to ensure that appropriate plans and cautions have been made before undergoing any surgical procedure.

Some individuals with Ehlers-Danlos syndrome also have another disorder called postural tachycardia syndrome (POTS). POTS is a form of dysautonomia, or malfunction of the autonomic nervous system. The autonomic nervous system controls functions of the body that are done without people thinking about them. This includes blood pressure, digestion, kidney function, and heart rate. In people with POTS, the heart rate is greater than 30 beats per minute that occurs with 10 minutes of the person standing up. Sometimes, the heart rate can be greater than 120 beats for minute. People can be lightheaded, weak, tremble, and have blurry vision. They may not be able to tolerate exercise, and have fluctuations in body temperature. Doctors don’t know what causes POTS and do not understand why some people with EDS are more likely to have POTS.

Talk to your doctor and medical team to learn more about POTS. Support groups for dysautonomia, like Dysautonomia International, will have more information about POTS.

Ehlers-Danlos syndrome (EDS) can cause chronic pain. This includes pain in the muscles, joints, tendons, ligaments and other areas where connective tissue is found. Sometimes, the pain can be severe. Pain can be related to looseness of the joints, frequent dislocations, fragile and easily damaged skin, and previous surgery. Individuals with EDS can have muscle pain, nerve pain, pain due to damage to tissues of the body or inflammatory pain. Pain can be treated with medications that reduce pain, and many people require relief of pain through medication. For long-term, chronic pain, doctors may recommend that patients seek mental health services. Behavioral and psychological therapy may be beneficial in helping people cope with chronic pain.

The Ehlers-Danlos Society can provide advice and support about dealing with chronic pain in EDS. There are several organizations that provide support, advice and guidance for people with chronic pain including the American Chronic Pain Association.

Ehlers-Danlos syndrome (EDS) can be inherited in autosomal dominant or recessive manner. People get two copies of most of our genes from our parents. One copy comes from their mothers and the other copy comes from their fathers.

In autosomal dominant inheritance, only one nonworking copy of a gene needs to be passed on from a parent. Therefore, only one parent needs to be a carrier for an autosomal dominant form of EDS. The risk of passing an altered gene through autosomal dominant inheritance is 50% for each pregnancy. This is true regardless if the child is a boy or girl. Sometimes an autosomal dominant disorder can occur even if neither parent has an altered gene. This happens when there is a new or ‘de novo’ mutation in a gene. This gene change occurs spontaneously. The likelihood of another child in this family having EDS is very low.

In autosomal recessive inheritance both parents must pass along a nonworking copy of the gene in question. People who have one working and one nonworking copy of such a gene are called carriers. When both parents are carriers, for each individual pregnancy, there is a 25% chance that both parents will pass along a nonworking copy of the gene and the child will have the disorder. There is a 50% chance that one parent will pass on the gene change and the other will not, meaning the child will be a carrier for the disorder. Finally, there is a 25% chance that both parents will pass along a working copy of the gene and the child will not have the disorder and will not be a carrier.

If you are interested in finding out if you are a carrier for EDS, talk to your doctor about testing or contact a genetic counselor in your area.

Joint hypermobility is a common symptom of Ehlers-Danlos syndrome (EDS). This means that a person can move their joints farther than normal. They may be extremely flexible and may be called double jointed. Age, gender, and family history all impact a person’s joint hypermobility in EDS. A widely accepted grading system is called the Beighton scale. A doctor will move several joints in specific ways and give a score based on how much mobility there is. A score of more than 5 out of 9 indicates hypermobility and a possible diagnosis of EDS.

The skin in Ehlers-Danlos syndrome (EDS) is assessed through a physical examination. A doctor will pull the skin up, away from the body until there is resistance. Most people with EDS have skin that stretches farther than normal. The skin will snap back into place when the doctor lets go. There are similar disorders to EDS in which the skin stretches in the same way, but does not snap back.

Talk to your doctor about this examination if you have questions. If you have skin that stretches farther than normal, let your doctors know so they can decide whether testing is appropriate in your situation.

Ehlers-Danlos syndrome (EDS) can be inherited in an autosomal dominant or an autosomal recessive manner. These are two ways a disorder or trait can be passed down through a family. Everyone has two copies of the genes associated with EDS; one received from their father and one from their mother.

Autosomal dominant inheritance means that a person receives one nonworking copy of the gene in question. With autosomal dominant inheritance, the one nonworking copy of the gene is sufficient to cause symptoms of the disorder. EDS classical type, EDS hypermobility type, EDS vascular type, and EDS arthrochalasia type follow autosomal dominant inheritance. Sometimes there is no family history of EDS and the change (mutation) in the gene that causes EDS occurs randomly for unknown reasons and is not inherited. The likelihood of another child having EDS in such a family is very low. The risk of passing an altered gene through autosomal dominant inheritance is 50% for each pregnancy. This is true regardless if the child is a boy or girl.

EDS kyphoscocliosis type, EDS dermatosparaxis type, and some of the very rare forms of EDS follow autosomal recessive inheritance. Autosomal recessive inheritance is when a person receives a nonworking copy of the gene in question from both parents. This means that the parents have one working copy of the gene and one nonworking copy; they are carriers for EDS. Carriers do not develop symptoms of the disorder. If two people who are carriers have autosomal recessive EDS, there is a 25% chance with each pregnancy that the child will have EDS and a 50% chance the child will also be a carrier.

If you have a family member with EDS and you would like to know if you are a carrier, talk to your doctor or meet with a genetic counselor to discuss testing options.

For many years, the different forms of Ehlers-Danlos syndrome (EDS) were classified with Roman numbers. EDS type I, EDS type II and eventually reaching EDS type XII. A more straightforward classification system was created that broke down EDS into six major subtypes and several other, very rare subtypes. Sometimes, doctors, people or medical literature uses the old classification with Roman numerals, which can be confusing. The Ehlers-Danlos Society has a list of the various subtypes of EDS.

Getting a diagnosis of Ehlers-Danlos syndrome (EDS) can be difficult and sometimes it can take many years. The signs and symptoms of the various subtypes can be very different. People with the same subtype, even members of the same family, can have very different symptoms. All this makes the disorder hard to recognize. Primary care physicians may not be familiar with the disorder, which can also contribute to delays in diagnosis. A diagnosis is usually suspected because someone has elastic, stretchy skin and loose joints that can move farther than normal. The skin may be fragile, heal poorly and have distinctive scarring.

If you believe that you or your child has EDS, you can request or seek out a referral to a genetics clinic that may be more familiar with these disorders. The Genetics and Rare Diseases Information Center provides information on how to find healthcare professionals with experience in specific conditions, specialty treatment centers, genetics clinics, and researchers who are studying a specific condition.

If you suspect that someone in your family has EDS, you should also talk to a genetic counselor in your area.

To learn about ongoing clinical research into Ehlers-Danlos syndrome (EDS) ask a physician who specializes in the disorder. Genetic counselors and medical geneticists are also excellence sources of information about ongoing clinical trials and can offer advice about the pros and cons about participating in such a trial.

Ongoing studies for EDS can also be found on clinicaltrials.gov, a service of the U.S. National Institutes of Health. In Europe, the EU Clinical Trial Register performs a similar service.

Support groups also have information about ongoing clinical trials as well as information and advice about participating in clinical trials. Support groups for EDS include the Ehlers-Danlos Society, Ehlers-Danlos Support UK, and the Ehlers-Danlos Syndrome Network C.A.R.E.S. Foundation.

The best way to obtain the most accurate, current, clear, and comprehensive information on Ehlers-Danlos syndrome (EDS) is to be seen at a connective tissue clinic or hereditary disorders of connective tissue programs at certain hospitals or medical centers. One of the best ways to find a treatment center or physician with experience in treating EDS is to contact a support group. Supports groups for EDS include the Ehlers-Danlos Society, Ehlers-Danlos Support UK, and the Ehlers-Danlos Syndrome Network C.A.R.E.S. Foundation.

In 2014, the Ehlers-Danlos Society and the Greater Baltimore Medical Center (GBMC) partnered together to establish the EDS Center for Research & Clinical Care at GBMC’s Harvey Institute for Human Genetics. This center provides comprehensive clinical care for patients, educational resources for physicians so they can learn about EDS and cutting-edge research into EDS, including exploring new treatments.

There are about a dozen genes associated with the different forms of Ehlers-Danlos syndrome (EDS). These genes produce proteins that are involved in the creation or processing of collagen. Collagen is a structural protein and is one of the major components in connective tissue. Collagen gives connective tissue form, strength and structure. Connective tissue is the material between the cells of the body that connects, supports, binds or separates other tissue or organs. It gives skin and blood vessels strength and elasticity. Because of unexpected gene changes (mutations) in specific genes, people with EDS do not produce or process collagen properly and their connective tissue does not develop in the right way. The connective tissue is weakened.

Children with Ehlers-Danlos syndrome (EDS) may need special accommodations in school. They are eligible for an individual education plan (IEP) or a 504 plan. An IEP is a document that helps to guide the education of a child with a disability or special needs. The plan is individualized for each student. A 504 plan ensures that students with disabilities can fully participate in school and have access to the same educational opportunities as all children. Parents are encouraged to provide a school with a packet of information on EDS and to work with school officials including teachers, nurses, psychologists, the principal, and other professionals.

The U.S. Department of Education has information on individual education plans and on 504 plans. The Ehlers-Danlos Society also provides An Educator’s Guide to help children with EDS succeed at school.

Some forms of Ehlers-Danlos syndrome are caused by changes (mutations) in certain genes that are inherited in an autosomal dominant manner. In autosomal dominant inheritance, only one nonworking copy of a gene needs to be passed on from one parent. Therefore, only one parent needs to be a carrier for an autosomal dominant form of EDS. The risk of passing an altered gene through autosomal dominant inheritance is 50% for each pregnancy. This is true regardless if the child is a boy or girl.

Sometimes an autosomal dominant disorder can occur even if neither parent has an altered gene. This happens when there is a new or ‘de novo’ mutation in a gene that occurs spontaneously. It may also be called a sporadic mutation. This gene change occurs at the time of the formation of the egg or sperm for that child only. Other family members will not have the disorder, and other children will not of these parents will not have EDS.

Collectively, the prevalence of Ehlers-Danlos syndrome (EDS) is estimated to affect about 1 in 5,000 people. Prevalence refers to the number of people who have a disorder in a given population at a specific time. However, sometimes people with EDS may go undiagnosed or misdiagnosed, which makes it difficult for researchers to accurately determine just how prevalence these disorders are. It is possible that EDS occurs more often than is estimated.

Some people with Ehlers-Danlos syndrome may need to see a heart doctor regularly. This includes people with EDS, vascular type and to a lesser degree EDS, kyphoscoliosis type and EDS, classic type. These people are at risk for spontaneous rupture of blood vessels or organs. They are encouraged to see a doctor immediately if they have sudden, unexplained pain. Some people may need surgery to treat these complications. Medications to lower blood pressure may be used if blood pressure is high. This will reduce stress on the blood vessels.

People with EDS who are at risk for cardiovascular complications should have a heart doctor, a cardiologist, on their medical team. They should develop a treatment and surveillance plan to best manage their symptoms. People who are at risk for these cardiovascular problems are encouraged to carry something with them at all times that documents their diagnosis such as a MedicAlert bracelet.

People with Ehlers-Danlos syndrome (EDS) are at an increased risk of being diagnosed with a psychiatric disorder such as depression or anxiety. Behavioral and psychological therapy may be beneficial in helping people cope with chronic illness and chronic pain. An evaluation by a psychiatrist or other mental health professional is recommended for anyone experiencing psychiatric symptoms. Talk to your or your child’s doctor for a recommendation. Organizations like the National Alliance for Mental Illness (NAMI) or the National Institute of Mental Health can provide information and support as well.

Not everyone who has Ehlers-Danlos syndrome (EDS) is at risk of heart problems or tearing or rupturing of blood vessels or organs. These complications are very serious and potentially life-threatening. The risk is greatest in people with the EDS, vascular type. To a lesser degree, people with the classic type or the kyphoscoliosis type have risk of these conditions. Patients should talk to their doctors and medical team about their specific situations so that the doctors can develop a plan to monitor their health based on their age and specific circumstances. People who are at risk for these cardiovascular problems are encouraged to carry something with them at all times that documents their diagnosis such as a MedicAlert bracelet.

Family planning is essential for anyone with Ehlers-Danlos syndrome who is thinking of having children. There can be risks for the mother and child, particularly in EDS, vascular type. Women with the vascular type of EDS are at risk for bleeding from the arteries or the rupture of the uterus during pregnancy. Vaginal tearing can also occur. They should be followed by medical professionals who are experienced at dealing with ‘high risk’ pregnancies.

There may also be complications in EDS, classic type. The risk of the baby being born premature is greater in women with the classic type than in women who do not have EDS. If a baby has low muscle tone (hypotonia), there is a greater risk of them being in the breech position. This could cause the newborn’s hips or shoulders to pop out of place (dislocate) during birth.

It is very important that women with EDS talk to their obstetricians & gynecologists as well as their regular doctor and medical team when consider becoming pregnant. Talking to a medical geneticist and a genetic counselor is also strongly recommended.

Children and adults with Ehlers-Danlos syndrome (EDS) should talk to their doctors and entire medical team before participating in sports or similar activities. Most medical sources strongly recommend against people with EDS participating in contact sports, especially people with EDS, vascular type or moderate or severe forms of other types of EDS. Low impact sports like swimming are encouraged to build muscle strength. People who do choose to participate in sports should take careful precautions including protecting themselves with pads or braces.

Some parents may choose to have their child tested for Ehlers-Danlos syndrome (EDS) before they are born. This is known as prenatal diagnosis. If the gene change(s) that causes EDS are known in a family, then molecular genetic testing (which can detect these changes) can be used for prenatal diagnosis. A sample of tissue can be taken from the placenta to test for changes in the specific gene known to cause a specific subtype of EDS. This test is called chorionic villus sampling. Another test is called amniocentesis, which involves taking a sample of the amniotic fluid that surrounds and protects a developing fetus. Cells known as amniocytes are taken from the fluid and studied for changes in the gene in question. There are risks to the unborn baby of doing these tests before birth. Talk to your doctor or a genetic counselor in your area to discuss the risks and benefits of prenatal diagnosis.

There are several very rare subtypes of Ehlers-Danlos syndrome (EDS). Most of these subtypes share the common symptoms of EDS – loose joints and hyperextensible skin. People with these disorders may have skin that stretches more than normal, but is also fragile and can tear or bruise easily. The skin also heals poorly and usually leaves distinctive scars. Loose joints that can be flexed or bent farther than other people can is also common. Joints in EDS are usually prone to popping out of place (dislocation) and chronic pain. Each subtype has additional symptoms associated with it as well. Rare subtypes of EDS include EDS, progeroid type; tenascin X deficiency; EDS, cardiovascular type; EDS, spondylocheirodysplasia type; EDS, musculocontractural type; and EDS, periodontal type. For more information on these subtypes visit OrphaNet, a web portal for information on rare diseases, or visit one of the EDS support groups like the Ehlers-Danlos Society, Ehlers-Danlos Support UK, and the Ehlers-Danlos Syndrome Network C.A.R.E.S. Foundation.

Ehlers-Danlos syndrome is not known by other names. It can be abbreviated as EDS. There are six major subtypes of EDS. They are:

There is no cure for Ehlers-Danlos syndrome (EDS). Doctors treat the specific symptoms that each individual develops. Because EDS is a group of disorders and they can cause different problems in different people, it is hard to make broad generalizations about treatment. Each individual or parent of a child with EDS will need to work with their doctors and entire medical team to develop a highly individualized treatment plan that is best for their particular situation.
Physical and occupational therapy can be very beneficial as they help to preserve the joints and strengthen muscles. These therapies are used to help children with low muscle tone and delays in developing motor skills. Low resistance muscle toning exercise can help to improve joint stability. Some doctors may recommend braces to stabilize loose joints. Some people may need to use a cane or similar device when walking. Precautions should be taken to protect children from injuries or trauma. This include avoiding contact sports or similar activities. Activities that are non-weight bearing, such as swimming, are recommended to build muscles and improve coordination. Children are encouraged to wear protective clothing or padding to protect the shins, knees, elbows, and other pressure points.

Some doctors may recommend pain medications such as anti-inflammatory medications for joint or chronic pain. Ascorbic acid (vitamin C) may reduce bruising.

Some people with EDS may need to see a heart doctor regularly. This includes people with EDS, vascular type and to a lesser degree EDS, kyphoscoliosis type and EDS, classic type. These people are at risk for spontaneous rupture of blood vessels or organs. These people are encouraged to see a doctor immediately if they have sudden, unexplained pain. Some people may need surgery to treat these complications.

There are several support groups or organizations for Ehlers-Danlos syndrome (EDS) that provide support, information, advice, referrals to physicians and medical centers, and up-to-date information on research and treatments. Support groups for EDS include:

Sometimes, Ehlers-Danlos syndrome (EDS) can affect the eyes. Certain subtypes are more likely to be associated with eye problems than other subtypes. Keratoconus has been reported in EDS, vascular type. Keratoconus affects the cornea, which becomes progressively thinner and irregularly-shaped. It can cause blurry vision, a sensitivity to light or glare, and other problems. A condition called carotid cavernous sinus fistula can occur in EDS, vascular type. This is an abnormal connection (passageway) between the internal or external carotid artery and the cavernous sinus, a cavity near the base of the brain. This can cause blurred vision, double vision, eye pain, and swelling of the conjunctiva, or the membrane that lines the eyes. Carotid cavernous fistula requires immediate medical intervention.

Some individuals with EDS, kyphoscoliosis type will have a small cornea, the transparent layer in front of the eyes, bluish discoloration of the sclera (the whites of the eyes), and a severe form of nearsightedness called high myopia, which can increase the risk of retinal detachment or glaucoma. The eyes may be fragile and minor trauma can cause rupturing of the sclera or cornea, or detachment of the retina.

High myopia and degeneration of the clear, gel-like substance in the eye (vitreous degeneration) can occur in people with EDS, hypermobility type.

People with EDS who are concerned about potential eye complications of the disorder should talk to an eye doctor who is experienced in treating these complications in people with EDS.

Some forms of Ehlers-Danlos syndrome (EDS) can cause problems with a person’s teeth and gums. Sometimes, the gums and the mucous membrane that lines the inside of the mouth are fragile and can tear easily. People with the vascular type of EDS can have gum disease and receding gums. A specific, very rare form of EDS call the periodontitis type (formerly called EDS type VIII) can cause disease of the gums and the tissue that surrounds and supports the teeth, often causing the teeth to fall out. Other symptoms have been described in EDS including teeth that are crowded together or hardening of the pulp tissue of the teeth. The pulp is the tissue in center of the tooth made up of connective tissue.

Patients should talk to their doctor and medical team about the potential of dental and oral problems with EDS. Patients should be seen by a dental professional experienced in treating these complications in people with EDS.

There are several disorders that may have signs and symptoms that are very similar to those seen in Ehlers-Danlos syndrome (EDS). These disorders include cutis laxa, Marfan syndrome, Loeys-Dietz syndrome, arterial tortuosity syndrome, osteogenesis imperfecta and familial joint hypermobility syndrome. Some doctors believe that familial joint hypermobility syndrome and EDS, hypermobility type are different expressions of the same disorder.