Genetic/Connective Tissue

Ehlers-Danlos Syndrome (EDS)

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues — primarily the skin, joints, and blood vessel walls. People who have EDS usually have overly flexible joints and stretchy, fragile skin. EDS is caused by defects in collagen production, and there are 13 subtypes with varying severity.

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Symptoms

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Causes

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Treatments

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Prevention

Condition Overview

Understand key symptoms, causes, diagnosis options, and treatment pathways for Ehlers-Danlos Syndrome (EDS). This overview is intended for patient awareness and should be followed by specialist consultation.

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Symptoms

  • Overly flexible joints (hypermobility)
  • Stretchy skin
  • Fragile skin that bruises easily
  • Skin that heals poorly leaving wide scars
  • Joint pain and dislocations
  • Fatigue
  • Chronic musculoskeletal pain

Causes

  • Mutations in genes controlling collagen production or processing
  • Autosomal dominant or recessive inheritance depending on type

Diagnosis

  • Physical examination (Beighton score for hypermobility)
  • Genetic testing
  • Skin biopsy
  • Echocardiogram (for vascular type)

Treatment

  • No cure; treatment is symptomatic
  • Physical therapy to strengthen muscles and protect joints
  • Braces or splints
  • Pain management
  • Surgery for severe joint or vascular complications

Risk Factors

  • Family history
  • Female sex (more commonly diagnosed in women)

Prevention

  • No prevention (genetic condition)
  • Joint protection strategies help prevent injury

Prevalence

EDS affects approximately 1 in 2,500–5,000 people. Hypermobile EDS is the most common subtype.

Related Conditions

Genetic

Marfan Syndrome

Marfan syndrome is a genetic disorder that affects the body's connective tissue. Connective tissue holds all the body's cells, organs, and tissue together. It also plays an important role in helping the body grow and develop properly. Marfan syndrome most commonly affects the heart, eyes, blood vessels, and skeleton.

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