Ehlers-Danlos Syndrome

Ehlers-Danlos syndrome is a one of a rare heterogeneous group of heritable disorders of connective tissue (collagen) that is characterised by skin extensibility, joint hypermobility and tissue fragility. It effects males and females of all races and is estimated to affect 1 in 5000 people.

There are said to be 6 types of the condition:

CLASSICAL
(formerly EDS I & II gravis and mitis type)
Major: Skin hyperextensibility; widened thin scars; joint hypermobility

Minor: Smooth velvety skin; molluscoid pseudotumours; complications of loose joints; muscle hypotonia; easy bruising;

manifestations of tissue extensibility (hernia, cervical insufficiency, etc.); positive family history.

HYPERMOBILITY

(formerly EDS III hypermobile type )

Major: Generalised joint hypermobility; skin hyperextensibility and smooth or velvety.
Minor: Recurrent joint dislocations; chronic limb and joint pains; positive family history.
VASCULAR

(formerly EDS IV arterial or ecchymotic type)

Major: Arterial/intestinal/uterine fragility or rupture; easy bruising; characteristic facial appearance.

Minor: Hypermobility of small joints; tendon and muscle rupture; club feet; varicose veins; positive family history; sudden death in close relative.

KYPHOSCOLIOSIS

(formerly EDS VI ocular or scoliosis type)

Major: Generalised joint laxity; severe muscle hypotonia in infancy; scoliosis present at birth and progressive; fragility of the sclera of the eye.

Minor: Tissue fragility; easy bruising; arterial rupture; Marfanoid body shape; microcomea; skeletal osteopenia on X-ray; positive family history of affected siblings.

ARTHROCHALASIA

(formerly included in EDS VII)

Major: Severe generalised joint hypermobility with dislocations; congenital bilateral hip dislocation.

Minor: Skin hyperextensibility; tissue fragility and scarring: easy bruising; muscle hypotonia; Kyphoscoliosis; skeletal osteopenia on X-ray; positive family history.

DERMATOSPRAXIS

(formerly included in EDS VII)

Major: Severe skin fragility; sagging, redundant skin.

Minor: Soft, doughy skin texture, easy bruising; premature rupture of foetal membranes; hernias.

(Taken from http://www.ehlers-danlos.org/index.php?option=com_content&task=view&id=4&Itemid=5)

Symptoms:

  • Skin
    • Hyperextensible, cutaneous fragility, varicose veins, epicanthis folds (beneath eyes), Molluscoid pseudotumours, spheroids
  • Joints
    • Hypermobility, laxity
  • Bruising
    • Easy bruising after minimal trauma
  • Mitral Valve collapse
  • Others
    • Arterial, uterine and intestinal ruptures
    • Scoliosis
    • Gum disease

For more information, visit http://www.ehlers-danlos.org/

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