Table 2.

2017 International Classification-Diagnostic criteria for hEDS.

2017 International Classification-Diagnostic criteria for hEDS (Table 2, adapted from 3)
The clinical diagnosis of hEDS needs the simultaneous presence of criteria 1, 2 and 3.
Criterion 1: GJH
The Beighton scoring system. Each joint is measured using a goniometer and each side is scored independently as outlined.4
(A) With the palm of the hand and forearm resting on a flat surface with the elbow flexed at 90°, if the metacarpal-phalangeal joint of the fifth finger can be hyperextended more than 90° with respect to the dorsum of the hand, it is considered positive, scoring 1 point.
(B) With arms outstretched forward but hand pronated, if the thumb can be passively moved to touch the ipsilateral forearm, it is considered positive scoring 1 point.
(C) With the arms outstretched to the side and hand supine, if the elbow extends more than 10°, it is considered positive scoring 1 point.
(D) While standing, with knees locked in genu recurvatum, if the knee extends more than 10°, it is considered positive scoring 1 point.
(E) With knees locked straight and feet together, if the patient can bend forward to place the total palm of both hands flat on the floor just in front of the feet, it is considered positive scoring 1 point. The total possible score is 9.
The Committee on behalf of the International Consortium on the Ehlers–Danlos Syndromes proposes 6 for pre-pubertal children and adolescents, 5 for pubertal men and women up to the age of 50, and 4 for those >50 years of age for hEDS.
Criterion 2: Two or more among the following features (A–C) MUST be present (for example, A and B; A and C; B and C; A, B and C)
Feature A: Systemic manifestations of a more generalized connective tissue disorder (a total of five must be present)
Unusually soft or velvety skin Mild skin hyper extensibility Unexplained striae such as striae distensae or rubrae at the back, groins, thighs, breasts and/or abdomen in adolescents, men or prepubertal women without a history of significant gain or loss of body fat or weight. Bilateral piezogenic papules of the heel Recurrent or multiple abdominal hernia(s) (e.g. umbilical, inguinal, crural) Atrophic scarring involving at least two 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: (i) positive wrist sign (Steinberg sign) on both sides; (ii) positive thumb sign (Walker sign) on both sides Arm span-to-height 1.05 MVP mild or greater based on strict echocardiographic criteria Aortic root dilatation with Z-score > þ2
Feature B: Positive family history, with one or more first-degree relatives independently meeting the current diagnostic criteria for hEDS.
Feature C: Musculoskeletal complications (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 frank joint instability, in the absence of trauma (a or b). (a) Three or more atraumatic dislocations in the same joint or two or more atraumatic dislocations in two different joints occurring at different times. (b) Medical confirmation of joint instability at two or more sites not related to trauma
Criterion 3: All 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, including autoimmune rheumatologic conditions. In patients with an acquired connective tissue disorder (e.g. lupus, rheumatoid arthritis, etc.), additional diagnosis of hEDS requires meeting both Features A and B of Criterion 2. Feature C of Criterion 2 (chronic pain and/or instability) cannot be counted towards 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 disorders (e.g. myopathic EDS, Bethlem myopathy), other HCTD (e.g. other types of EDS, Loeys–Dietz syndrome, Marfan syndrome) and skeletal dysplasias (e.g. OI). Exclusion of these considerations may be based upon history, physical examination and/or molecular genetic testing, as indicated.

hEDS: hypermobile Ehlers–Danlos syndrome; GJH: generalized joint hypermobility; EDS: Ehlers–Danlos syndrome; MVP: mitral valve prolapse; HCTD: Heritable connective tissue disorder; OI: osteogenesis imperfecta.