This syndrome is caused by a defect in one of the genes that control the production of connective tissue.
Typical symptoms include flexible joints, a humpback, flat feet, and elastic skin.
The diagnosis is based on symptoms and results of a physical examination.
Most people with this syndrome have a normal life span.
There is no cure for Ehlers-Danlos syndrome.
Ehlers-Danlos syndrome is caused by an abnormality in one of the genes that controls the production of connective tissue. Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity.
There are 6 major types (with widely varying severity) of Ehlers-Danlos syndrome involving different genes and causing slightly different changes. The result is abnormally fragile connective tissue, which causes problems in joints and bones and may weaken internal organs.
(See also Overview of Hereditary Connective Tissue Disorders Overview of Connective Tissue Disorders in Children Connective tissue is the tough, often fibrous tissue that binds the body's structures together and provides support and elasticity. Muscles, bones, cartilage, ligaments, and tendons are built... read more .)
Children with Ehlers-Danlos syndrome usually have very flexible joints. Some develop small, hard, round lumps under the skin, a chest deformity, a humpback with an abnormal curve of the spine (kyphoscoliosis Scheuermann Disease Kyphosis is an abnormal curving of the spine that causes a humpback. (See also Overview of Bone Disorders in Children.) The upper back normally curves forward somewhat. Some children have a... read more ), or a clubfoot Clubfoot and Other Foot Defects Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. The usual clubfoot is a down and inward turning of the hind foot and ankle... read more . Most adults have flat feet Pes planus (flat feet) Clubfoot (talipes equinovarus) is a birth defect in which the foot and ankle are twisted out of shape or position. The usual clubfoot is a down and inward turning of the hind foot and ankle... read more . The skin can be stretched up to several inches but returns to its normal position when released.
Ehlers-Danlos syndrome may alter the body’s response to injuries. Minor injuries may result in wide gaping wounds. Although these wounds usually do not bleed excessively, they leave wide scars. Sprains and dislocations develop frequently.
In a small number of children with Ehlers-Danlos syndrome, the blood does not clot normally, so bleeding from minor wounds may be difficult to stop.
The intestines can bulge through the abdominal wall (called a hernia Abdominal Wall Hernias A hernia is the bulge of an organ through the muscle or tissue that holds it in place. There are many different types of hernias. The most common hernias are in the wall of your abdomen (belly)... read more ), and abnormal outpouchings (diverticula Definition of Diverticular Disease Diverticular disease is characterized by small, balloon-like sacs (diverticula) protruding through the layers of particular structures in the gastrointestinal tract (digestive tract). A single... read more ) can develop in the intestine. Rarely, a fragile intestine bleeds or ruptures (perforates—see Perforation of the Digestive Tract Perforation of the Digestive Tract Any of the hollow digestive organs may become perforated (punctured), which causes a release of gastrointestinal contents and can lead to sepsis (a life-threatening infection of the bloodstream)... read more ). Sometimes weak tissue in a heart valve causes the valve to leak.
If a pregnant woman has Ehlers-Danlos syndrome, delivery may be premature Preterm Labor Labor that occurs before 37 weeks of pregnancy is considered preterm. Babies born prematurely can have serious health problems. The diagnosis of preterm labor is usually obvious. Measures such... read more . The mother's fragile tissues may make an episiotomy or cesarean delivery (C-section) difficult. If the fetus has Ehlers-Danlos syndrome, the amniotic sac may rupture early (premature rupture of membranes Prelabor Rupture of the Membranes (PROM) Prelabor rupture of the membranes is the leaking of amniotic fluid from around the fetus at any time before labor starts. After the membranes rupture, labor often soon follows. If labor does... read more ). A mother or baby who has Ehlers-Danlos syndrome can bleed excessively before, during, and after delivery.
A doctor bases the diagnosis of Ehlers-Danlos syndrome on the symptoms and results of a physical examination. To confirm the diagnosis, genetic tests are usually done.
The doctor can try to determine some of the types of Ehlers-Danlos syndrome by taking a sample of skin to examine under a microscope (biopsy).
Other tests are done to check for conditions that are associated with complications. For example, echocardiography Echocardiography and Other Ultrasound Procedures Ultrasonography uses high-frequency (ultrasound) waves bounced off internal structures to produce a moving image. It uses no x-rays. Ultrasonography of the heart (echocardiography) is one of... read more and other imaging tests are usually done to detect problems with the heart or blood vessels.
There is no way to cure Ehlers-Danlos syndrome or correct the abnormalities in the connective tissue. Injuries can be treated, but it may be difficult for a doctor to stitch cuts because stitches tend to tear out of the fragile tissue. Usually, using an adhesive tape or medical skin glue closes cuts more easily and leaves less scarring.
Special precautions should be taken to prevent injuries. For example, children with severe forms of Ehlers-Danlos syndrome can wear protective clothing and padding.
Surgery requires special techniques that minimize injury and ensure that a large supply of blood is available for transfusion. An obstetrician (a doctor who specializes in childbirth and in caring for and treating women who are giving birth) must supervise pregnancy and delivery. Genetic counseling for family members is suggested.