Hypermobile Ehlers-Danlos syndrome (hEDS) is a heritable connective tissue disorder that causes generalized joint hypermobility, joint instability, and chronic pain. hEDS is also associated with a variety of other symptoms and related conditions that affect many different areas of the body.
hEDS is the most common type of EDS, accounting for about 90% of EDS cases. hEDS is currently classified as a rare disorder and is thought to affect at least 1 in 3,100–5,000 people. However, the true prevalence of hEDS is not known and may be underestimated.
hEDS may be suspected if a person has:
People with hEDS may also have:
You can learn more about the features of hEDS by selecting different body parts on the left side of the screen.
The cause(s) of hEDS have not been identified. The condition appears to follow an autosomal dominant inheritance pattern. This means people with hEDS have a 50% chance of passing the condition on to each child they have.
There is currently no laboratory test available to diagnose hEDS. The diagnosis of hEDS is given to adults who meet the clinical diagnostic criteria for hEDS. Children and adolescents with generalized joint hypermobility can be assessed using the pediatric diagnostic framework.
To meet the diagnostic criteria for hEDS, a person must meet all three criteria (1 and 2 and 3).
Feature A: Manifestations of a connective tissue disorder (must have five or more of the following):
Feature B: Positive family history (one or more first-degree relatives independently meet the current diagnostic criteria for hEDS)
Feature C: Musculoskeletal complications (must have at least one of the following):
hEDS is managed by addressing the symptoms a person is experiencing. hEDS can cause a variety of symptoms in many areas of the body, so people with hEDS may require multiple providers in different specialties to manage their care. Key aspects of care include physical therapy and pain management. Everyone with hEDS is different, so each person should work with their care team to develop a care plan that meets their individual needs.
Signs and Symptoms
Musculoskeletal
Skin
Nervous System
Spine
Head
Mouth and Throat
Eyes
Cardiovascular
Gastrointestinal
Pelvic organs
Immune System
Hands
Feet
Pregnancy
How to Use:
Explore the features of hEDS by selecting different body parts from the menu.
Please note that hEDS affects each person differently. The symptoms listed here may not affect everyone with hEDS, and people with hEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with hEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
Select from the list below to learn how hEDS can affect the musculoskeletal system.
Joint hypermobility means a joint has a greater range of motion than usual. People with hEDS have generalized joint hypermobility, which means joint hypermobility is present in many areas throughout the body.
A joint is the point where two or more bones connect. Joint instability means the bones of a joint are not held in place securely. This can lead to joint subluxations, dislocations, sprains, and other injuries.
A joint dislocation occurs when two bones at a joint separate completely and are no longer touching. A subluxation is a partial dislocation in which two bones at a joint are out of place but are still touching each other.
Most people with hEDS have chronic pain that persists over a long period of time. hEDS can also cause acute pain that lasts for a shorter period due to something specific, like an injury.
Ligaments are bands of connective tissue that can connect two bones in a joint. Sprains occur when ligaments are stretched or torn, which can cause pain, swelling, and bruising.
Tendons are bands of connective tissue that connect muscles to bones and other structures. Strains occur when muscles or tendons are stretched or torn, which can cause pain, swelling, and muscle spasms.
Cartilage is a connective tissue that protects the joints by cushioning the bones and preventing them from rubbing together. Osteoarthritis (OA) occurs when the cartilage in a joint wears away. Osteoarthritis can cause joint pain, swelling, and stiffness.
Osteoarthritis is common as people age because it is caused by wear on the joints over time. Osteoarthritis may start at a younger age in people with hEDS because joint hypermobility causes increased wear on the joints.
Arm span is the distance between a person’s fingertips when their arms are outstretched parallel to the ground in opposite directions while standing upright. A person’s arm span is usually about the same as their height, with an arm span-to-height ratio of about 1. Some people with hEDS have a longer arm span than height, with an arm span-to-height ratio greater than or equal to 1.05.
Select from the list below to learn how hEDS can affect the skin.
Skin hyperextensibility means the skin can be stretched beyond the normal range. Many people with hEDS have mild skin hyperextensibility.
People with hEDS often bruise easily.
People with hEDS may have soft, velvety skin.
Some people with hEDS have fragile skin that is prone to tearing.
Wounds may heal poorly or take longer to heal in people with hEDS.
Atrophic scars are sunken or depressed scars that form when wounds heal below the normal surface layer of the skin. This happens when the body does not produce enough collagen during healing.
Stretch marks, also called striae, are scars that occur when skin stretches or shrinks quickly. These indented streaks in the skin are common in people who have had rapid weight changes, including during pregnancy. Some people with hEDS have unexplained stretch marks without a history of significant weight changes or pregnancy.
Local anesthesia is a medicine used to numb parts of the body before a medical procedure. Local anesthetics, such as lidocaine, are not as effective in some people with hEDS.
Select from the list below to learn how hEDS can affect the nervous system.
Dysautonomia, also called autonomic dysfunction, is a group of disorders that affect the autonomic nervous system. The autonomic nervous system regulates many involuntary bodily processes that we do not consciously think about, including heart rate, blood pressure, body temperature, sweating, digestion, metabolism, and bladder control.
Common symptoms of dysautonomia include:
Each type of dysautonomia causes different symptoms. Many people with hEDS have a type of orthostatic intolerance, which means the symptoms occur when upright or standing. The two most common types of orthostatic intolerance are:
Proprioception is the ability to sense the body’s position and movement. Research shows that people with hEDS have decreased proprioception. Reduced proprioception may make a person seem clumsy or uncoordinated and increase the risk of injury.
Neuropathic pain is a type of persistent (or chronic) nerve pain caused by problems with the nervous system. Nerve pain may feel like burning, stabbing, shooting, numbness, or tingling.
Nerve entrapment occurs when a nerve is compressed or pinched by surrounding tissues. Nerve entrapment can cause pain, numbness, tingling, and weakness in the affected area.
Small fiber neuropathy (SFN) occurs when small nerve fibers are damaged. Small nerve fibers regulate bodily processes and carry sensations like pain and temperature to the brain. Symptoms of SFN include pain, numbness, tingling, and burning in the feet and hands.
Idiopathic intracranial hypertension (IIH), also called pseudotumor cerebri, is an increase in pressure around the brain. IIH can cause symptoms such as headaches and vision changes.
Cerebrospinal fluid (CSF) is a liquid that surrounds and protects the brain and spinal cord. A CSF leak happens when CSF leaks out through a tear in the outer lining of the brain and spinal cord.
Symptoms of CSF leaks include:
Thoracic outlet syndrome (TOS) occurs when nerves or blood vessels in the lower neck and upper chest are compressed.
Symptoms of TOS include:
Select from the list below to learn how hEDS can affect the spine.
Scoliosis is a sideways curve in the spine. Scoliosis gives the spine an “S” or “C” shape.
Kyphosis is an abnormal forward curve in the spine that causes the upper back to look more rounded. Some people with hEDS develop postural kyphosis due to poor posture and loose connective tissues.
Craniocervical instability (CCI) is increased movement where the spine meets the skull. This can happen when the surrounding tissues are too weak or loose to properly support the joint between the skull and the first vertebra of the spine.
Symptoms of CCI include:
The atlantoaxial joint connects the first (C1) and second (C2) vertebrae in the neck. Atlantoaxial instability (AAI) is increased movement in the atlantoaxial joint. This can happen when the surrounding tissues cannot properly support this joint.
Symptoms of AAI include:
Chiari I malformation, also called Arnold-Chiari 1 malformation, occurs when the lower part of the brain bulges into the spinal canal. This may put pressure on parts of the lower brain and upper spinal cord and block the flow of cerebrospinal fluid.
Symptoms of Chiari I malformation include:
The spinal cord is part of the nervous system that extends from the brain to the lower back. It carries nerve signals back and forth between the brain and the nerves that run throughout the body.
The spinal cord normally floats freely inside a tube in the spine called the spinal canal. In tethered cord syndrome (TCS), the spinal cord is stuck (tethered) to the inside of the spinal canal. This limits the spinal cord’s movement and causes it to stretch.
Symptoms of tethered cord syndrome include:
The spine is made up of bones called vertebrae. The vertebrae are separated by discs of connective tissue that support and cushion them and allow the spine to move. Degenerative disc disease happens when the spinal discs wear down and no longer properly cushion the vertebrae.
Degenerative disc disease becomes more common as people age due to wear on the joints over time. Joint hypermobility and instability can increase wear on the joints, which may contribute to the development of degenerative disc disease in people with hEDS.
Select from the list below to learn how hEDS can affect the head.
Fatigue is severe tiredness or lack of energy that prevents a person from functioning normally. Many people with hEDS have chronic fatigue, which is constant or recurring fatigue that lasts for more than six months.
People with hEDS may get headaches for several different reasons, including:
People with hEDS may sometimes feel lightheaded or dizzy, particularly when standing. Lightheadedness is often due to dysautonomia in people with hEDS.
People with hEDS may have issues with sleep initiation (falling asleep), sleep maintenance (staying asleep), and sleep restoration (getting refreshing sleep).
Obstructive sleep apnea (OSA) is when breathing stops repeatedly during sleep due to a partial or complete airway blockage.
Anxiety is a feeling of worry, nervousness, or unease about something. Anxiety can cause physical symptoms, such as fast heart rate, rapid breathing, and sweating.
Depression is a constant feeling of sadness and loss of interest in activities.
Attention deficit hyperactivity disorder (ADHD) is a condition that causes people to be inattentive, hyperactive, and impulsive.
Autism spectrum disorder, also called autism or ASD, is a neurodevelopmental disorder that affects how people communicate and interact with the world. Autism is a “spectrum disorder,” which means there is wide variation in both the type and severity of symptoms. Autism is often associated with difficulties with social and communication skills, repetitive behaviors, restricted interests, and sensory sensitivities.
Select from the list below to learn how hEDS can affect the mouth and throat.
Some people with hEDS have a high or narrow palate, meaning the roof of the mouth is unusually tall or narrow.
Dental crowding, or malocclusion, means there is not enough space for all of the teeth to fit in the mouth properly.
The temporomandibular joint (TMJ) connects the lower jaw to the skull. Problems with the TMJ and the ligaments and muscles that control it are more common in people with hEDS.
Some people with hEDS have trouble producing or sustaining their voice, also known as dysphonia.
Some people with hEDS have a hard time swallowing, also known as dysphagia.
Select from the list below to learn how hEDS can affect the eyes.
Myopia, also called nearsightedness or shortsightedness, is a condition that makes it difficult to see objects that are far away. Due to differences in eye shape, people with myopia can see objects near them more clearly but have trouble seeing objects further away.
Select from the list below to learn how hEDS can affect the cardiovascular system.
Tachycardia occurs when the heart beats too fast, at more than 100 beats per minute at rest. Many people with hEDS experience tachycardia due to dysautonomia.
The heart has four chambers separated by valves that open and close to ensure that blood flows in the correct direction. The mitral valve separates the left chambers of the heart.
Mitral valve prolapse (MVP) occurs when the mitral valve is floppy and does not close tightly. Some people with hEDS have MVP, but it is usually mild and does not progress or require treatment.
The aorta is the largest artery in the body. It carries blood from the heart to the rest of the body. Aortic root dilation occurs when the first section of the aorta is enlarged. Some people with hEDS have mild aortic root dilation, but it typically does not progress or require treatment.
Select from the list below to learn how hEDS can affect the gastrointestinal system.
Gastrointestinal motility is the movement of food through the digestive system. Problems with this process are known as dysmotility. Dysmotility occurs when the muscles or nerves of the digestive system don’t work properly. This can cause symptoms such as reflux, nausea, vomiting, abdominal pain, bloating, constipation, and diarrhea.
The esophagus is a tube that connects the throat to the stomach. Gastroesophageal reflux disease (GERD) occurs when stomach acid regularly flows backward into the esophagus. This backward flow of acid can cause burning in the chest, which is known as heartburn. GERD can also cause swallowing and voice problems.
Gastroparesis, also called delayed gastric emptying, occurs when the stomach either slows down or stops working, causing food to remain in the stomach for longer. Symptoms of gastroparesis include nausea, vomiting, feeling full at the beginning of a meal, and feeling full long after a meal.
Irritable bowel syndrome (IBS) is a condition that causes abdominal pain and changes in bowel movements.
People with hEDS may feel uneasy and feel the need to vomit.
Some people with hEDS experience pain in the abdomen, the midsection of the body that contains the gastrointestinal system and other organs.
Bloating is feeling fullness, tightness, or pressure in the abdomen. It is usually caused by a buildup of air or gas in the stomach or intestines. Bloating may be uncomfortable and make the abdomen look larger.
People with hEDS may have infrequent or difficult bowel movements.
People with hEDS may have loose, watery, or more frequent bowel movements.
A hernia occurs when an internal body part pushes through a weak spot in the tissues that support it. This creates an outward bulge, typically in the abdomen or groin.
Abdominal vascular compression syndromes are a group of conditions that occur when blood vessels in the abdomen are put under pressure (compressed) by nearby structures or organs. Abdominal vascular compression syndromes can cause pain, nausea, vomiting, and other symptoms
Types of abdominal vascular compression syndromes include:
Select from the list below to learn how hEDS can affect the pelvic organs.
Voiding dysfunction occurs when there are problems with filling, storing, and emptying urine from the bladder. Symptoms of voiding dysfunction include changes in urinary frequency (urinating more than eight times a day), urgency (feeling a stronger need to urinate), retention (being unable to completely empty the bladder), and control (urine leaking from the urethra).
Urinary incontinence is the loss of bladder control. People with urinary incontinence are not always able to prevent urine from leaking out of the urethra.
Prolapse occurs when one or more pelvic organs fall from their normal position. This happens when the muscles and tissues cannot properly support the bladder, uterus, or rectum.
Dyspareunia is pain in the genital area before, during, or after sexual intercourse.
People with hEDS who menstruate are more likely to have painful periods (dysmenorrhea) and heavy periods or periods that last longer than usual (menorrhagia).
Select from the list below to learn how hEDS can affect the immune system.
Mast cells are part of the immune system that cause inflammation and allergic reactions when activated. Mast cell activation syndrome (MCAS) refers to an increased number of mast cells, increased activity of mast cells, or both.
MCAS can cause many different symptoms throughout the body, including typical allergic responses (such as hives, itchiness, and anaphylaxis), gastrointestinal symptoms (such as nausea and abdominal pain), and bladder issues (such as pain and inflammation).
Select from the list below to learn how hEDS can affect the hands.
Some people with hEDS have arachnodactyly, which means their fingers and toes are unusually long and slender.
Select from the list below to learn how hEDS can affect the feet.
Piezogenic papules are small bumps of fat that appear under the skin when pressure is applied to the heels or wrists. Piezogenic papules usually do not cause problems but can cause pain in some cases.
Select from the list below to learn how hEDS can affect pregnancy.
People with hEDS may experience changes in their symptoms during pregnancy. This may include the worsening of the following:
Some people with hEDS bleed more during pregnancy and birth. This may be due to fragile tissues or problems with the platelets.
The active phase of labor starts when the cervix dilates to 6 centimeters and contractions become regular. This active phase usually lasts about four to eight hours but may be shorter (less than 3 hours) for people with hEDS.
Please note that hEDS affects each person differently. The symptoms listed here may not affect everyone with hEDS, and people with hEDS may have other symptoms that are not listed on this page. This page is intended to provide information about symptoms that may occur in individuals with hEDS and does not constitute medical advice. Always consult a healthcare professional for personalized medical guidance.
Hypermobile Ehlers-Danlos Syndrome: Clinical Description and Natural History (Tinkle et al., 2017)
https://doi.org/10.1002/ajmg.c.31538
The 2017 International Classification of the Ehlers-Danlos Syndromes (Malfait et al., 2017)
https://doi.org/10.1002/ajmg.c.31552
2017 Special Issue of the American Journal of Medical Genetics
https://www.ehlers-danlos.com/2017-eds-international-classification/
2021 Special Issue of the American Journal of Medical Genetics
https://onlinelibrary.wiley.com/toc/15524876/2021/187/4
Current hEDS & HSD Research: The Search for Causes and Diagnostic Tests
https://www.ehlers-danlos.com/heds-hsd-research/
