Diagnosis of Ehlers-Danlos syndrome depends on the type. All types are diagnosable based on clinical examination by a geneticist, rheumatologist, or a primary care physician knowledgeable in EDS. For some of the types, there is genetic testing available. There is currently no genetic testing available for hypermobility type, although testing may be ordered to rule out more life-threatening types like vacular EDS. 

In many or all cases, the diagnosing physician will test the individual for hypermobility as this is the most commonly presenting feature in EDS.

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Diagnosis of hypermobilty according to the Brighton Scale requires the presence of: 

2 major criteria 

OR

1 major criteria and 2 minor criteria

OR 

4 Minor Criteria

 

The Major Criteria are:

• Beighton Score of 4/9 or more (or history of it) This is the joints bending backwards thing. 

• Joint Pain in 4 or more joints for 3 or more months

 

The minor criteria:

• Beighton score less than 4/9

• Joint pain in 1-3 joints (or involving your back) for a period of more than 3 months

• Soft tissue inflammation and/or lesions (3 or more; includes bursitis, tendonitis, Tensynovitis)

• Marfanoid Habitus (This is the ratio of your armspan to your height, essentially asking if your armspan is longer than your height)

• Skin features (any of these counts) including thin skin, easily tearing skin, easy scarring, abnormal scarring

• Eye feature (any of these counts): nearsightedness, drooping eyelids, slanted eyes

• Varicose Veins, hernias of any kind, or organ prolapse

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The Beighton Score as listed above is derived from the Beighton Test for Hypermobility as follows:

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One point is given for each movement the individual is capable of performing; one point for left and another for the right when applicable. A score greater than 4 is historically indicative of hypermobility. 

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The Beighton scale has been criticized for its limited effectiveness for gauging overall flexibility. Due to this, the Brighton Criteria were developed. Recently, revisions to the Beighton scale have been discussed to correct this issue.