Table 3.

Diagnostic Criteria for Hypermobile Ehlers-Danlos Syndrome (hEDS)3

Criterion 1—generalized joint hypermobility
Beighton score __/9
· ≥ 6 for prepubertal children and adolescents
· ≥ 5 for pubertal men and woman to age 50
· ≥ 4 for men and women over age 50
If Beighton score is 1 point below age-specific cutoff, affirmative answer to 2 of the following questions will meet criterion 1.
· Can you now (or could you ever) place your hands flat on the floor without bending your knees?
· Can you now (or could you ever) bend your thumb to touch your forearm?
· As a child, did you amuse your friends by contorting your body into strange shapes or could you do the splits?
· As a child or teenager did your shoulder or kneecap dislocate on more than one occasion?
· Do you consider yourself “double jointed”?
Criterion 2—2 or more of the following (A, B, or C) must be present
Feature A (5 must be present)
· Unusually soft or velvety skin
· Mild skin hyperextensibility
· Unexplained striae distensae or rubae at the back, groins, thighs, breasts, and/or abdomen in adolescence, men or prepubertal women without a significant gain or loss of body fat or weight
· Bilateral piezogenic papules of the heel
· Recurrent or multiple abdominal hernia(s)
· Atrophic scarring involving at least 2 sites and without the formation of truly papyraceous and/or hemosideric scars as seen in classical EDS· Pelvic floor, rectal, and/or uterine prolapse in children, men, or nulliparous women without a history of morbid obesity or other known predisposing medical condition
· Dental crowding and high or narrow palate
· Arachnodactyly, as defined in one or more of the following: (1) positive wrist sign (Walker sign) on both sides, (2) positive thumb sign (Steinberg sign) on both sides
· Arm span-to-height ratio >/= 1.05
· Mitral valve prolapse mild or greater based on strict echocardiographic criteria
· Aortic root dilation with Z-score > +2
Feature B
· Positive family history; 1 or more first-degree relatives independently meeting the current criteria for hEDS
Feature C (must have at least 1)
· Musculoskeletal pain in 2 or more limbs, recurring daily for at least 3 months
· Chronic, widespread pain for >/= 3 months
· Recurrent joint dislocations or frank joint instability, in the absence of trauma
Criterion 3—all of the following prerequisites MUST be met
· Absence of unusual skin fragility, which should prompt consideration of other types of EDS
· Exclusion of other heritable and acquired connective tissue disorders (CTDs), including autoimmune rheumatologic conditions. In patients with an acquired CTD (eg, lupus, rheumatoid arthritis, etc), additional diagnosis of hEDS requires meeting both features A and B of criterion 2 (chronic and/or instability) cannot be counted toward a diagnosis of hEDS in this situation.
· Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses and diagnostic categories include, but are not limited to, neuromuscular disorder (eg, Bethlem myopathy), other hereditary disorders of the connective tissue (eg, other types of EDS, Loeys-Dietz syndrome, Marfan syndrome), and skeletal dysplasias (eg, osteogenesis imperfecta). Exclusion of these considerations may be based upon history, physical examination, and/or molecular genetics testing, as indicated.