TABLE 2.
EDS diagnostic checklist listing the three main criterion
| Criterion 1: Generalized joint hypermobility |
| Beighton score: |
| ≥6 in prepubertal children and adolescents |
| ≥5 in pubertal men and women up to age 50 |
| ≥4 men and women over the age of 50 |
| If one point below cut off two or more “yes” answers to the five point questionnaire should be considered (Table 3). |
| Criterion 2: Two or more of the following features (A, B, or C) must be present |
| Feature A (five must be present): |
| • Unusually soft or velvety skin |
| • Mild skin hyperextensibility |
| • Unexplained striae distensae or rubae at the back, groin, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant changes in weight |
| • Bilateral piezogenic papules of the heel |
| • Recurrent or multiple abdominal hernias |
| • Atrophic scarring involving at least two sites without the formation of papyraceous and/or hemosideric scars |
| • Pelvic floor, rectal and/or uterine prolapse in children, men or nulliparous women without history of morbid obesity or predisposing medical condition |
| • Dental crowing and high or narrow palate |
| • Arachnodactyly (positive Walker sign or Steinberg sign on both sides) |
| • Arm span to height ratio ≥1.05 |
| • Mitral valve prolapse |
| • Aortic root dilatation with Z-score >+2 |
| Feature B: |
| • Positive family history (one or more first degree relatives meeting current criteria for hEDS) |
| Feature C (must have at least one): |
| • Musculoskeletal pain in two or more limbs, recurring daily for at least 3 months |
| • Chronic, widespread pain for ≥3 months |
| • Recurrent joint dislocations or joint instability in the absence of trauma |
| Criterion 3: All of the following 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. In patients with an acquired connective tissue disorder, additional diagnosis of hEDS requires meeting both features A and B of criterion 2. Feature of criterion C cannot be counted in this situation |
| • Exclusion of alternative diagnoses that may also include joint hypermobility by means of hypotonia and/or connective tissue laxity. Alternative diagnoses may include: neuromuscular disorders (e.g., Bethlem myopathy), other hereditary connective tissue disorders (e.g., Loeys-Dietz syndrome, Marfan syndrome, other types of EDS) and skeletal dysplasias (e.g., osteogenesis imperfecta) |