20 Symptoms and Causes of Ehlers-Danlos Syndrome
2. Overly Flexible Joints
Overly flexible joints are a common feature of Ehlers-Danlos Syndrome (EDS). This increased range of motion, known as joint hypermobility, occurs when connective tissues lack the strength and stability needed to support the joints. As a result, joints may move beyond normal limits and feel loose or unstable.
At first, this flexibility may seem harmless or even useful. However, joints that move too freely are more prone to strain. Daily activities can become challenging, as hypermobility often leads to joint pain, instability, or frequent dislocations. Areas such as the shoulders, knees, and fingers may slip out of place with minor movements, causing discomfort.
As the body works harder to keep the joints aligned, muscle fatigue can increase. Mild cases may cause only occasional soreness, while more severe hypermobility can interfere with walking, writing, or lifting objects. Children with EDS often show greater flexibility than adults, as joints tend to stiffen slightly with age.
3. Stretchy Skin
Stretchy skin is a common feature of Ehlers-Danlos syndrome and is often noticed early on. This increased elasticity, sometimes called hyperelastic skin, occurs because weakened connective tissue cannot provide normal structure and strength. As a result, the skin becomes unusually soft, flexible, and able to stretch beyond typical limits.
At first, the skin may feel smooth or silky. Over time, however, the extra stretch makes it more vulnerable to injury. Bruising can occur easily, and small cuts or scrapes may tear more readily and heal slowly. Some people develop thin or widened scars, while others may notice sagging or loose folds in areas that experience repeated pulling or pressure.
Stretchy skin is more prominent in certain types of Ehlers-Danlos syndrome, particularly the classical type. In these cases, increased elasticity is often visible during childhood. The degree of stretch varies from person to person, but even mild changes can point to an underlying connective tissue problem.
4. Fragile Skin
Fragile skin is a common feature of Ehlers-Danlos Syndrome and often becomes noticeable through frequent bruising or tearing. This happens because the connective tissue that supports the skin is weaker than normal, leaving the skin more delicate and slower to heal after injury. Even minor bumps or small scrapes can result in visible bruises or cuts.
In some types of EDS, the skin may also feel soft or slightly stretchy. While this texture may not seem concerning at first, it reflects reduced strength in the skin’s layers. Because the tissue does not hold together firmly, everyday activities involving pressure, friction, or repeated contact can increase the risk of skin damage. When wounds heal, scars may look different than usual. Thin, wide, shiny, or slightly sunken scars can form due to poor tissue repair.
5. Gastrointestinal Issues
Gastrointestinal issues are common in people with Ehlers-Danlos syndrome and often develop because connective tissue plays a key role in supporting the stomach and intestines. When this tissue is weaker than normal, the digestive tract may not function as efficiently, leading to changes in digestion and bowel movement.
Early or mild symptoms may include heartburn, constipation, nausea, or bloating. Some people notice abdominal discomfort after meals, frequent fullness, or difficulty absorbing nutrients. Bowel habits can become irregular, shifting between constipation and looser stools without a clear pattern.
In some cases, digestive problems become more pronounced. Individuals may experience ongoing acid reflux, delayed stomach emptying, or difficulties with intestinal movement that slow or disrupt the passage of food.
6. Aortic Issues
Aortic issues can occur in people with Ehlers-Danlos syndrome because connective tissue is an important part of blood vessel structure. The aorta, which carries blood from the heart to the rest of the body, relies on strong connective tissue to maintain its shape and strength.
When this tissue is weakened, the aortic wall can stretch or tear more easily than normal. Over time, a weakened section of the aorta may slowly expand, forming an aortic aneurysm. This balloon-like bulge develops as pressure from blood flow pushes against the fragile artery wall. If the aneurysm continues to grow, it can rupture or separate, leading to serious internal bleeding.
These risks are higher in people with vascular forms of EDS, where blood vessels are especially fragile. Certain factors can increase strain on the aorta and worsen existing problems. High blood pressure, smoking, and natural aging all raise stress on artery walls.
7. Skeletal Dysmorphology
Skeletal dysmorphology in Ehlers-Danlos syndrome involves structural differences in bones and joints due to weaker connective tissue. Connective tissue supports bones, ligaments, and joints, so any looseness or fragility can impact bone growth and alignment. Some people show visible skeletal differences, while others mainly experience discomfort, pain, or reduced movement.
Common skeletal features include joint misalignment, a curved spine, flat feet, or differences in chest shape. Bones and joints may appear unusually flexible, and in some cases, there is a higher risk of small fractures or gradual deformities. In children with EDS, skeletal differences may become more noticeable during growth spurts, when joints and ligaments are placed under increased stress.
Evaluation usually begins with a physical examination and may include imaging tests to look for changes such as scoliosis, uneven shoulders, or differences in limb length. These assessments help identify how the skeleton is affected and whether alignment issues are progressing.
8. BCS
Brittle Cornea Syndrome is a rare form of Ehlers-Danlos syndrome that primarily affects the eyes and connective tissue. The condition is marked by extremely thin corneas, which are the clear front layers of the eyes. Because the corneas lack normal strength, they are fragile and more prone to tearing or rupture.
Eye-related symptoms often appear early in life. Many individuals with BCS develop nearsightedness, light sensitivity, or difficulty seeing in low-light conditions. Due to the delicate nature of the cornea, even minor trauma can cause serious eye injury. For this reason, protective eyewear is commonly recommended to reduce the risk of damage during daily activities.
In addition to eye involvement, BCS can affect other connective tissues in the body. Some people experience mild joint flexibility or loose skin, especially around the eyes and hands. In a small number of cases, hearing loss has been reported, likely related to connective tissue changes within the ear.
9. Issues With Collagen Production
Collagen is a key protein that provides strength and flexibility to the skin, joints, blood vessels, and other connective tissues. In Ehlers-Danlos Syndrome (EDS), changes in specific genes interfere with how the body produces or processes collagen. These genetic differences weaken connective tissues and affect multiple systems throughout the body.
When collagen fibers do not form correctly, tissues lose their normal support. The skin may become soft, overly stretchy, and prone to bruising. Joints can move beyond their usual range, increasing the risk of pain, instability, or dislocations. If collagen in blood vessel walls is affected, the vessels may become fragile and more likely to stretch or tear under pressure.
Different types of collagen serve different roles in the body. Type I collagen helps maintain firmness in bones and skin, while type III collagen supports blood vessels and internal organs. Genetic changes that disrupt a specific collagen type tend to cause symptoms in the tissues that rely on that collagen for strength. Some individuals experience mainly joint flexibility, while others develop more serious problems involving the skin, blood vessels, or organs, depending on which connective tissues are most affected.
10. Premature Aging
Premature aging can be seen in some people with Ehlers-Danlos syndrome, particularly in the skin and joints. This occurs because connective tissue, which normally provides strength and elasticity, is weaker or formed differently. When this support tissue stretches too easily or breaks down, the skin loses firmness earlier than expected.
Skin changes may appear during childhood or early adulthood. The skin can look thin, loose, or wrinkled at a younger age, with sagging becoming more noticeable in areas that are frequently stretched, such as the hands, elbows, and face. Easy bruising and the presence of scars can further contribute to an aged appearance.
Joints may also show signs of early wear. Because loose joints place extra strain on surrounding structures, joint pain, stiffness, or weakness can develop sooner than usual. Over time, this repeated stress may affect movement, endurance, and overall strength in daily activities.
Compared with typical aging, these changes occur much earlier in Ehlers-Danlos syndrome. Skin thinning and wrinkles develop gradually with normal aging, while in EDS they appear earlier and are often more pronounced. Joint changes that typically occur slowly over many years can sometimes cause early discomfort or weakness due to ongoing strain on connective tissue.
11. Varicose Veins
Varicose veins are more common in people with Ehlers-Danlos syndrome because connective tissue plays an important role in supporting vein walls and valves. When this tissue is weaker than normal, veins may have trouble keeping blood moving upward toward the heart. As blood pools, the veins gradually enlarge, twist, and become more visible, most often in the legs.
Early signs usually include veins that appear dark blue or purple beneath the skin. Some individuals also notice leg aching, swelling, or a heavy feeling, especially after standing or sitting for long periods. Over time, poor circulation can lead to skin changes such as discoloration or itching around the affected veins. In some cases, small wounds near varicose veins may heal more slowly due to reduced blood flow.
Elevating the legs, staying physically active, and avoiding long periods of standing still can help improve circulation. Compression garments may also be recommended to support vein function and reduce swelling.
12. Pneumothorax
A pneumothorax occurs when air becomes trapped between the lung and the chest wall, preventing the lung from expanding fully. This trapped air can cause the lung to partially or completely collapse. In some forms of Ehlers-Danlos syndrome, lung and connective tissues may be more fragile, which increases the risk of this condition. Diagnosis is usually confirmed through imaging, such as a chest X-ray or CT scan, which shows the amount of air trapped and the extent of lung collapse.
Symptoms often begin suddenly. Common signs include sharp chest pain and shortness of breath, with pain that may worsen during deep breathing or coughing. Some people also experience shoulder pain, chest tightness, lightheadedness, or faintness. If oxygen levels drop, the skin or lips may appear bluish. Weak connective tissue within the lungs is a key risk factor, but chest injury, intense coughing, or underlying lung disease can also contribute. Smoking further increases the risk.
13. Easy Bruising
Easy bruising is common in people with Ehlers-Danlos syndrome and often becomes noticeable early on. This happens because the small blood vessels in the skin are more fragile than normal. Weakened connective tissue provides less support to these vessels, so even light contact or mild pressure can cause bruises that may take longer to fade.
The underlying reason for this fragility is impaired collagen function. Collagen normally helps strengthen blood vessel walls, but when it does not work properly, vessels can break more easily. Blood then leaks into the surrounding skin, causing bruises that may appear larger, darker, or more widespread than expected for a minor bump.
Some people develop small bruises during routine activities, while others experience large areas of discoloration after very minor injuries. Although the appearance can be concerning, easy bruising usually does not indicate ongoing internal bleeding.
14. Congenital Hip Dislocation
Congenital hip dislocation, also known as developmental dysplasia of the hip, occurs when the upper part of the thigh bone does not fit securely into the hip socket. This condition may be present at birth or develop during early childhood. The hip joint can be shallow, loose, or completely out of position, affecting stability and movement.
In people with Ehlers-Danlos syndrome, connective tissues that support joints, tendons, and muscles are weaker than normal. Because of this reduced support, the hip joint may be less stable. Infants born with EDS may show abnormal hip positioning at birth or experience partial or complete hip dislocation early in life.
Signs often appear during infancy and early childhood. These can include uneven leg length, limited range of hip motion, or a clicking or popping sensation when the hip moves. Some children may have delayed walking or develop an unusual walking pattern.
15. Clubfoot
Clubfoot, also called talipes, is a condition present at birth in which one or both feet are turned inward or downward. The affected foot may look twisted, stiff, or slightly shorter than normal. This occurs when tight tendons and soft tissues pull the foot out of its normal position.
In some children with Ehlers-Danlos syndrome, clubfoot can develop because connective tissues are weaker or more flexible than normal. These tissues may not provide enough support to hold the bones of the foot in proper alignment during growth. Although not everyone with EDS develops clubfoot, it is a recognized feature in certain types of the condition.
Treatment typically starts shortly after birth, involving gentle stretching and a series of casts over several weeks to gradually position the foot more normally. In some cases, minor surgery may be needed to release tight tendons or help maintain proper positioning as the foot develops.
16. Receding Gums
Receding gums can occur in people with Ehlers-Danlos syndrome because the connective tissues that support the gums and teeth are weaker than normal. These tissues keep the gums attached, but when they stretch too much, the gums can start to pull away from the teeth. As more of the tooth surface becomes exposed, sensitivity to hot, cold, or pressure can increase.
Early changes may include gums that bleed easily or spaces between the teeth that appear wider than before. Fragile gum tissue in EDS has more difficulty staying anchored, especially when irritation, inflammation, or mild gum infections are present. Over time, this can lead to ongoing discomfort and noticeable changes in appearance.
Gum recession can result from oral hygiene, hormonal changes, or aging, but people with EDS may still face it despite good dental care. Common signs of gum issues include receding gums, increased tooth sensitivity, slight bleeding when brushing or flossing, and teeth that look longer than usual.
17. Under or Overdevelopment of the Earlobes
Under- or overdevelopment of the earlobes can be seen in some people with Ehlers-Danlos syndrome and often reflects how the condition affects connective tissue growth. These differences usually appear early in life. Earlobes may look thinner, longer, enlarged, or irregular in shape, and the changes can affect one or both ears.
The skin and cartilage of the ears rely on connective tissue to maintain normal shape and strength. In EDS, this support is weaker, which can lead to uneven development of the earlobes. While these changes do not usually affect hearing, they may alter the ear’s appearance or make the earlobes more flexible than usual.
Fragile skin may also cause the earlobes to bruise or tear more easily. As connective tissue loses its ability to hold structures firmly in place, soft areas such as the earlobes may droop or stretch over time.
18. Septate Uterus
A septate uterus is a congenital condition in which a thin band of tissue divides the uterine cavity into two sections. This occurs before birth when the uterus does not fully form into a single open space. The dividing septum may be partial or complete, and its size can vary from person to person.
Women with Ehlers-Danlos syndrome may have a higher likelihood of uterine structural differences, including a septate uterus. Weakened connective tissues play a role in how organs develop and maintain their shape. When these tissues are fragile, the uterus may not form normally during early development. Some individuals experience no symptoms and only discover the condition during fertility testing or pregnancy evaluations.
Others may face reproductive challenges such as difficulty with embryo implantation, miscarriage, or preterm birth. When the septum causes complications, a minimally invasive surgical procedure performed through the cervix can remove the dividing tissue.
19. Bicornuate Uterus
A bicornuate uterus is a congenital uterine condition that develops before birth. In this anomaly, the uterus forms with two upper sections, creating a heart-shaped appearance rather than a single, smooth cavity. This occurs when the two halves of the uterus do not fully fuse during fetal development.
Many individuals with a bicornuate uterus have no noticeable symptoms. Others may experience irregular menstrual bleeding or pelvic discomfort. In some cases, the altered shape of the uterus can affect pregnancy by limiting space for fetal growth, which may increase the risk of miscarriage or preterm birth.
A bicornuate uterus does not cause Ehlers-Danlos syndrome, but it may be seen more often in people with connective tissue disorders. Because Ehlers-Danlos syndrome affects collagen and tissue strength, it may influence uterine development or function, contributing to structural differences such as this one.
20. Pregnancy Complications
Pregnancy can be more challenging for those with Ehlers-Danlos syndrome, as the condition impacts the connective tissues that support the uterus, blood vessels, skin, and joints. Weakened tissue strength can increase certain risks during pregnancy and childbirth, including rapid labor, early delivery, and a higher chance of tissue tearing during birth.
Skin and blood vessel changes may become more noticeable as pregnancy progresses. Fragile skin can lead to pronounced stretch marks or easy bruising, while weakened blood vessels may increase the risk of bleeding during or after delivery. As the body adapts to support the growing baby, joint pain or instability may also worsen, making movement and daily activities more difficult.
Recovery after childbirth can take longer for some individuals with EDS. Poor wound healing may delay recovery, particularly if surgical procedures such as cesarean delivery are needed.
