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HEREDITARY MONOGENIC DISEASES

           

Ehlers-Danlos syndrome

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders marked by extremely loose joints, hyperelastic (very stretchy) skin that bruises easily, and easily damaged blood vessels.

There are 6 major types and at least 5 minor types of Ehlers-Danlos syndrome.

A variety of gene changes (mutations) cause problems with collagen. This is the material that provides strength and structure to the skin, bone, blood vessels and internal organs. The abnormal collagen leads to the symptoms associated with EDS.

SIGNS AND SYMPTOMS

The severity of the symptoms varies from slight to severe and weakening and they depend on the specific type of EDS:

  • Back pain
  • Double-jointedness
  • Easily damaged, bruised, and stretchy skin
  • Easy scarring and poor wound healing
  • Flat feet
  • Increased joint mobility, joints popping, early arthritis
  • Joint dislocation
  • Joint pain
  • Premature rupture of membranes during pregnancy
  • Very soft and velvety skin
  • Vision problems (myopia)

RISK FACTORS

The most important risk factor for developing EDS is a family history of the disorder. Genetic counseling is recommended for prospective parents with a family history of Ehlers-Danlos syndrome.

PREVENTION

Identifying any significant health risks may help prevent severe complications by vigilant screening and lifestyle alterations.

GENE OR REGION STUDIED


  • B4GALT7