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What is Ehlers-danlos Syndrome ?  

Ehlers-Danlos syndrome (EDS)? Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues. mostly of the skin, joints and walls of the blood vessels. The structure, production or processing of collagen or proteins that interact with collagen is defective. Collagen is an important contributor to the physical strength of skin, joints, muscles, ligaments, blood vessels and viceral organs. These structures become more elastic when collagen is abnormal.

Cause(s) :  
  • Genetic Mutation
Symptoms :  Musculoskeletal symptoms:
  • Overly flexible joints
  • Early onset of advanced osteoarthritis
  • Swan neck deformity or Boutonniere deformity of fingers
  • Tearing of tendon muscles
  • Spinal deformities such as scoliosis, kyphosis, tethered spinal cord syndrome
  • Skin:
    • Stretchy skin which feels soft and velvety
    • Fragile skin which does not heal well in case of wound
    • Redundant skin folds
    • Fatty lumps which are harmless growths at pressure points around the knees or elbows, called Molluscoid pseudotumors

    Cardiovascular Symptoms:
    • Valvular heart disease
    • Postural orthostatic tachycardia syndrome
    • Raynaud’s Phenomenon
    • Dilation or rupture ascending aorta

    Other complications:
    • Hiatal hernia
    • Anal prolapse
    • Nerve compression disorders
    • Insensitivity to local anesthetics
    • Arnold-Chiari malformation (brain disorder)
    • Platelet aggregation failure
    • Collapsed lung
    • Sleep apnea
    • Pregnancy complications like increased pain, peripartum bleeding, cervical insufficiency, uterine tearing
  • Pain in muscles (myalgia) and joints (arthralgia)
Diagnosis and Tests :  
  • Echocardiogram
  • Collagen gene mutation testing
  • Collagen typing via skin biopsy
  • Lysyl hydroxylase or oxidase activity
Category :  Congenital Conditions

Specialist to consult :  Paediatrics

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