Hypermobile Ehlers-Danlos syndrome

This is the most common form of EDS (Tinkle et al, 2017). There is currently no known genetic marker for this variant of EDS.

The skin and joint features may be similar as those of Classical EDS but less severe. Joint pain and fatigue also appear to be more common in this form of EDS. Other signs of tissue fragility such as hernias and varicose veins may also be found. Importantly, this type of EDS is not associated with weakness or rupture of major blood vessels or bowel wall, or with the more severe forms of scoliosis.

It should be noted that this criteria was designed as a research criteria, and is in the process of being validated as a diagnostic criteria. This means that some medical professionals use different terms. You can find out more about these on our page 'hEDS, JHS, and HSD'.

Under the 2017 criteria, an individual must fulfil each of the 3 domains.

In the second domain they must fulfil at least 2 of the 3 descriptors (A, B and C) by achieving sufficient scores where relevant.

Domain 1

The presence of generalized joint hypermobility (based on the Beighton Score or 5-part questionnaire)

Domain 2

(A) – skin or fascia signs and/or pelvic floor concerns and/or Marfanoid features (having at least 5 of all the features mentioned

(B) a family history

(C) At least 1 of the following 3 presentations:

Musculoskeletal pain in 2 or more limbs recurring daily for at least 3 months, or
Widespread pain for ≥3 months, or
Recurrent joint dislocations in the absence of trauma – 3 or more atraumatic dislocations in the same joint, or atraumatic dislocations in 2 different joints occurring at different times, or medical confirmation of joint instability at 2 or more sites not related to trauma
Domain 3 The absence of any other underlying Heritable Disorder of Connective Tissue including other variants of EDS

The features that constitute Domain 2 (A) are:

Skin/fascia

Unusually soft or velvety skin
Mild skin hyperextensibility
Unexplained striae such as striae distensae or rubrae
Bilateral piezogenic papules of the heel
Atrophic scarring involving at least two sites and without the formation of truly papyraceous and/or hemosiderotic scars as seen in classical EDS
Recurrent or multiple abdominal hernia
Pelvic floor, rectal, and/or uterine prolapse in children, men or nulliparous women without predisposing medical condition

Marfanoid features:

Dental crowding and high or narrow palate
Mitral valve prolapse (MVP) mild or greater based on strict echocardiographic criteria
Arm span-to-height ≥1.05 AND/OR upper segment/lower segment ratio <0.89
Arachnodactyly, as defined in one or more of the following: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides; (iii) hand/height ratio > 11% on both sides; (iv) foot/height ratio > 15% on both sides
Aortic root dilatation with Z-score >+2 on echocardiograph

It should be noted that this criteria was designed as a research criteria, and is in the process of being validated as a diagnostic criteria. This means that some medical professionals use different terms. You can find out more about these on our page 'hEDS, JHS, and HSD'.