Table of ContentsView AllTable of ContentsTypes and SymptomsCausesDiagnosisTreatmentComplicationsCopingOutlook
Table of ContentsView All
View All
Table of Contents
Types and Symptoms
Causes
Diagnosis
Treatment
Complications
Coping
Outlook
Ehlers-Danlos syndrome (EDS) refers to a group of geneticconnective tissue disorders. EDS affects 1 in 5,000 people worldwide, according to the National Library of Medicine’s Genetics Home Reference.EDS is usually noticed at birth or in early childhood, but it is also possible for a person to develop symptoms as a young adult.
Here is what you need to know about Ehlers-Danlos syndrome, including types, symptoms, causes, treatment, and more.
Ehlers-Danlos Syndrome Types and Symptoms
EDS is currently classified into 13 major subtypes, and each type has a set of specific symptoms. Each type of EDS affects different parts of the body.
Common symptoms of EDS include easy bruising, loose joints (joint hypermobility), stretchy skin (skin hyperextensibility), tissue weakness, and atrophic scarring (indented and imbalanced scarring below normal layers of skin because the skin is unable to generate tissue).
Classic-type and hypermobility are the most common types of EDS. The other types are rarer. What all the types have in common is hypermobility—a large range of motion of the joints.
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Classic
About 6% of patients have aortic root dilatation or mitral valve prolapse. Generally, all patients with EDS will get a baseline echocardiogram to look at the heart and aorta, with the timing of repeat tests based on various factors. The carotid artery may appear abnormal and pneumothorax (collapse of the lung) is sometimes seen.
Hypermobility
This type mainly affects the joints, and dislocations are common. A child with hypermobile EDS will be more flexible than their peers. This advanced flexibility can lead to joint dislocations or scoliosis.
Delayed gastric emptying, orthostatic hypotension (sometimes with associated syncope), and different kinds of headaches may be seen. Patients may also have irritable bowel syndrome.
One study found a 12% incidence of aortic root dilation (a condition that can lead to aortic complications) in this group, but a follow-up study did not concur. Mitral valve prolapse is present in up to 6% of patients.
A child with this condition may suffer from chronic pain, and have joint locking and stiffness.
Vascular
This form of EDS, which accounts for about 4% of cases, may cause spontaneous rupture of the arteries or bowel; maternal mortality during pregnancy is also increased. Aclubfoot deformityis common in newborns with this condition. Some of them may also have congenital hip dislocations.
Skin hyperextensibility varies throughout and veins can be seen through the skin. In 80% of patients, there is the risk of a serious vascular or organ complication, and a person’s life span may be shortened.
Kyphoscoliosis
Babies with this type of EDS are late in reaching milestones—such as sitting or walking—because of poor muscle tone. Older children will also have problems with walking. Joints are hypermobile and unstable, leading to frequent dislocations.
Skin may be stretchy and bruise easily. The skin may be fragile and develop wide scars. The upper part of the spine develops a curve, which may cause a hunched appearance, and the chest may appear unequal.TreatingkyphoscoliosisEDS may require spine and back surgery.
This condition also causes the cornea (transparent front of the eye) to be smaller than usual, and in rare cases, the cornea may rupture due to fragility of the wall of the eyeball. Several other ocular abnormalities are also possible.
Arthrochalasia
This form of EDS causes short stature (height), severe joint hypermobility, and frequent dislocations.Skin involvement may be mild or severe.
Dermatosparaxis
People with this type of EDS have severely fragile skin that sags and folds. This rare type of EDS can be diagnosed with a skin biopsy.
Brittle Cornea Syndrome
Classical-Like EDS
This type of EDS causes skin hyperextensibility with velvet skin texture. Unlike classic EDS, it does not cause atrophic scarring, joint hypermobility, easily bruised skin, and skin discoloration—due to bleeding below skin.
Spondylodysplastic
This type of EDS is known for causing short stature in childhood, poor muscle tone that ranges from severe at birth to mild when the onset is later, skin abnormalities, and bowing of limbs.
Musculocontractural
This form of EDS causes congenital malformations (physical defects present at birth) and shortened and hardened muscles, tendons, and tissues in the thumbs and feet that may lead to deformity and disability.
Normal facial features and normal cognitive development are common. Musculocontractural EDS also causes easy bruising, skin hyperextensibility, atrophic scarring, and palmar wrinkling—an exaggeration of normal palm and finger wrinkling like what is seen when hands are in water for a prolonged time.
Myopathic
A joint contracture causes limited range of motion of a joint from damage to other structures, such as bone, cartilage, joint capsules, muscles, tendons, and skin.
Periodontal
Cardio-valvular
This form of EDS is known for causingheart valve problems, skin problems—atrophic scars—hyperextensibility, thin skin, easy bruising, and joint hypermobility.
Symptoms in Children
EDS can also affect other systems in the body and make a child more prone to injury, bruising, skin tears, and other injuries. It may take longer for a child with EDS to heal from minor trauma.
Children with EDS may have difficulties at school because they may struggle with writing or sitting for long periods, have poor concentration, and experience high levels of fatigue. They may have mobility problems and reduced strength that makes it harder to carry books and heavy backpacks.
Ehlers-Danlos Syndrome Causes
There are at least 19 gene mutations that have been linked to the development of EDS. EDS causes defects in the genes that process and form collagen—the protein found in muscles, bones, blood vessels, skin, and other connective tissues. For most people, the condition is inherited. However, there are cases where the condition is not inherited.
Gene Mutation
Some of the genes associated with EDS are COL1A1, COL1A2, COL3A1, COL5A1, and COL5A2. These genes are responsible for providing instructions for making sections of collagen. Sections form into mature molecules of collagen to hold together connective tissues throughout the body. Other genes—ADAMTS2, FKBP14, PLOD1, and TNXB—give direction to proteins for processing and interacting with collagen. Mutations to any of these genes can disrupt the production and processing of collagen, leading to weak connective tissues.
Inheritance Pattern
The inheritance pattern for EDS differs based on the type. Classic, vascular,arthrochalasia, periodontal, and hypermobility types follow an autosomal dominant inheritance pattern—where one copy of the mutated gene is enough for the disease to develop. Most of the time, an affected person has inherited the affected gene from a parent who also has it. It is also possible to develop EDS from a new gene mutation and to have no history of EDS in the family.
The classical-like, cardio-valvular,dermatosparaxis,kyphoscoliosis,spondylodysplastic, andmusculocontracturaltypes and brittle cornea syndrome are inherited in an autosomal recessive pattern, where a person inherited two mutated genes, one from each parent.
Myopathic EDS can follow either an autosomal dominant or autosomal recessive inheritance pattern.
How Genetic Disorders Are Inherited
Tests for Ehlers-Danlos Syndrome
A healthcare provider will use a variety of testing to make an EDS diagnosis and to rule out other conditions. This may include genetic testing, skin biopsies, physical exam, and imaging.
Genetic tests: This is the most common method for identifying a faulty gene. Samples—usually blood, but sometimes skin, saliva, or amniotic fluid—are taken and examined in a lab.
Skin biopsy: With this test, the healthcare provider will take an affected skin sample and send it to a lab for examination under a microscope to look for signs of EDS, including specific genes and gene abnormalities.
Physical exam: A healthcare provider will want to see how much skin stretches and how far joints can move.
Imaging: X-rays andcomputed tomography(CT) take images of the inside of the body to look for EDS abnormalities—usually related to heart and bone problems. Anechocardiogrammight be done to determine how well the heart is pumping. The echocardiogram will also be able to help in diagnosing mitral valve prolapse.
A CT angiogram of the chest may be necessary to look at the aorta to see if there is any focal area of weakness in its wall, which can cause an aneurysm.
Ehlers-Danlos Syndrome Treatments
The goals of treatment for Ehlers-Danlos syndrome include preventing dangerous complications and protecting the joints, skin, and other body tissues from injury. Treatment will be specific to the type of EDS and the symptoms experienced.
Your healthcare provider may also focus on managing and preventing chronic pain and fatigue and overall optimization and improvement of your complete health picture. This can include pain medications, psychotherapy, physical therapy, pain interventions and surgery, education and lifestyle changes, and management of comorbidities (other conditions you have).
Yearly eye exams are generally done if there is any eye involvement. The heart and aorta will be assessed and then monitored with varying frequency. If there is aortic dilation, medication may be given to lower blood pressure. Also, in cases of aortic dilation, the frequency of monitoring will depend upon the extent of dilation and the degree to which it is expanding.
Preoperative care may require special precautions.
Individuals with vascular EDS require very close follow-up and avoidance of trauma (including endovascular procedures as much as possible). One small study found that a drug called celiprolol significantly reduced vascular rupture over a 47-month period. In addition, blood pressure will be monitored; pregnant women will require specialized care.
Medications
Your healthcare provider may prescribe medications for managing pain andblood pressure.Over-the-counter pain relievers—including acetaminophen (Tylenol), ibuprofen (Advil), and naproxen sodium (Aleve)—are helpful in treating pain associated with EDS. Your healthcare provider can also prescribe stronger medications for pain relief as needed or for acute injuries.
Physical Therapy
Physical therapycan help to strengthen muscles and stabilize joints. Weak joints are more likely to become dislocated. Your physical therapist can recommend supportive braces to prevent dislocations.
Surgery
Protecting Skin and Joints
To protect your skin, your healthcare provider may recommend wearing sunscreen when outdoors and using a mild soap when washing or bathing. Avitamin C supplementcan reduce bruising.
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Treating EDS in Children
If your child has EDS, a specialist will usually make a diagnosis after reviewing your child’s medical and family history and performing a medical exam, skin biopsy, and other necessary testing.
Much like the treatment for teens, young adults, and older adults with the condition, your child’s treatment plan will likely focus on managing symptoms and preventing further complications. This will include medications, physical therapy, practicing good lifestyle habits, and, if necessary, surgery.
To better manage your child’s condition, your child’s healthcare provider may bring in other experts who manage other related conditions, such as a cardiologist, an orthopedic healthcare provider, or a geneticist.
EDS Complications
The complications of EDS are dependent on type. Some of these complications can be life-threatening.
Vascular symptoms in EDS can cause blood vessels to tear and lead tointernal bleeding, aortic dissection, or astroke.The risk of organ rupture is high in people with EDS, as are intestinal tears and uterine tears in pregnant people.
Other potential complications of EDS include:
Coping With EDS
Because EDS is a lifelong illness, coping will be challenging. Depending on the severity of symptoms, these can affect you at home, work, and in your relationships. There are many ways to help you cope.
Don’t Treat a Child With EDS Differently
If your child has EDS, treat your child like other children, and ask friends and family to do the same. Make sure teachers and other caregivers are aware of your child’s condition and challenges. Share with them appropriate caregiving for a medical event or injury.
While you want to encourage your child to be physically active, discourage contact sports and those that pose a high potential for injury. Your child’s healthcare provider or a physical therapist can offer some recommendations on physical activity and joint protection.
Try to be open with your child about EDS, and allow them to express their feelings about it, even the negative ones.
What Is Life Expectancy for Ehler-Danlos Syndrome?
The outlook for people with Ehlers-Danlos syndrome depends on the type of EDS they have and the specific disease symptoms. Most types—especially if managed and treated—will not affect a person’s life expectancy. However, if the disease is not managed, complications of the disease may alter a person’s life span—although the median life span for those with the vascular form of EDS is 48 years, and life expectancy is also decreased with kyphoscoliosis due to vascular and lung issues.
Summary
EDS in diagnosed with various tests, including genetic tests, skin biopsies, physical exams, and imaging such as X-rays and CT scans.
Treatment may involve pain medications, psychotherapy, physical therapy, surgery, and lifestyle changes.
10 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetics Home Reference.Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Kyphoscoliotic Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Arthrochalasia Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Dermatosparaxis Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Brittle cornea syndrome.Genetic and Rare Diseases Information Center.Musculocontractural Ehlers-Danlos syndrome.Reinstein E, DeLozier CD, Simon Z, et al.Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Eur J Hum Genet. 2013;21(2): 233–236. doi:10.1038/ejhg.2012.132Zhou Z, Rewari A, and Shanthanna H.Management of chronic pain in Ehlers–Danlos syndrome: Two case reports and a review of literature. Medicine (Baltimore). 2018 Nov; 97(45): e13115. doi:10.1097/MD.0000000000013115Cleveland Clinic.Ehlers-Danlos syndrome.Medline Plus.Ehlers-Danlos syndrome.Additional ReadingThe Ehlers-Danlos Society.EDS Types.
10 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetics Home Reference.Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Kyphoscoliotic Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Arthrochalasia Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Dermatosparaxis Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Brittle cornea syndrome.Genetic and Rare Diseases Information Center.Musculocontractural Ehlers-Danlos syndrome.Reinstein E, DeLozier CD, Simon Z, et al.Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Eur J Hum Genet. 2013;21(2): 233–236. doi:10.1038/ejhg.2012.132Zhou Z, Rewari A, and Shanthanna H.Management of chronic pain in Ehlers–Danlos syndrome: Two case reports and a review of literature. Medicine (Baltimore). 2018 Nov; 97(45): e13115. doi:10.1097/MD.0000000000013115Cleveland Clinic.Ehlers-Danlos syndrome.Medline Plus.Ehlers-Danlos syndrome.Additional ReadingThe Ehlers-Danlos Society.EDS Types.
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Genetics Home Reference.Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Kyphoscoliotic Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Arthrochalasia Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Dermatosparaxis Ehlers-Danlos syndrome.Genetic and Rare Diseases Information Center.Brittle cornea syndrome.Genetic and Rare Diseases Information Center.Musculocontractural Ehlers-Danlos syndrome.Reinstein E, DeLozier CD, Simon Z, et al.Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Eur J Hum Genet. 2013;21(2): 233–236. doi:10.1038/ejhg.2012.132Zhou Z, Rewari A, and Shanthanna H.Management of chronic pain in Ehlers–Danlos syndrome: Two case reports and a review of literature. Medicine (Baltimore). 2018 Nov; 97(45): e13115. doi:10.1097/MD.0000000000013115Cleveland Clinic.Ehlers-Danlos syndrome.Medline Plus.Ehlers-Danlos syndrome.
Genetics Home Reference.Ehlers-Danlos syndrome.
Genetic and Rare Diseases Information Center.Kyphoscoliotic Ehlers-Danlos syndrome.
Genetic and Rare Diseases Information Center.Arthrochalasia Ehlers-Danlos syndrome.
Genetic and Rare Diseases Information Center.Dermatosparaxis Ehlers-Danlos syndrome.
Genetic and Rare Diseases Information Center.Brittle cornea syndrome.
Genetic and Rare Diseases Information Center.Musculocontractural Ehlers-Danlos syndrome.
Reinstein E, DeLozier CD, Simon Z, et al.Ehlers–Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features.Eur J Hum Genet. 2013;21(2): 233–236. doi:10.1038/ejhg.2012.132
Zhou Z, Rewari A, and Shanthanna H.Management of chronic pain in Ehlers–Danlos syndrome: Two case reports and a review of literature. Medicine (Baltimore). 2018 Nov; 97(45): e13115. doi:10.1097/MD.0000000000013115
Cleveland Clinic.Ehlers-Danlos syndrome.
Medline Plus.Ehlers-Danlos syndrome.
The Ehlers-Danlos Society.EDS Types.
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