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 much 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.

Table 2 describes the criteria for diagnosing hEDS. An individual must fulfill each of the 3 domains (Table 1). In the second domain they must fulfill at least 2 of the 3 descriptors (A, B and C) by achieving sufficient scores where relevant. The domains are summarized below.

Table 2. The diagnostic criteria for hEDS.

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