Establishing a correct diagnosis of Ehlers Danlos Syndrome hypermobility type (hEDS) in children and adolescents – position statement

The purpose of this position statement is to clarify the current criteria in making a diagnosis of hEDS in children and adolescents and to provide advice to paediatric health professionals in relation to provision of appropriate rehabilitation.

Background and policy context

The majority of the child (0-10 years) and adolescent (11-19 years) population that have significant joint laxity, have no symptoms12. A minority suffer joint pain and fatigue alongside their flexibility34; it is within this cohort that health professionals can consider a diagnosis of hEDS.

Currently, health professionals who look after children and adolescents, should use the EDS 2017 consensus criteria5 to diagnose hEDS. Children and adolescents must have a Beighton Score6 of 6 or above as assessed by a suitably trained professional. The term Hypermobility Spectrum Disorder (where the Beighton score is 5 or less) is not a recognised entity in children or adolescents.

Unlike in the other EDS subtypes (including classical, vascular, kyphoscoliotic) there is no clear causative connective tissue abnormality in hEDS5. Genetic sequencing and histology to date show normal collagen formation. 

In some young people persistent pain, with or without joint laxity or disease, leads to other disabling symptoms including sleeplessness, anxiety, reduced mobility/deconditioning, altered bowel habit, profound dizziness, nausea, blurred vision and hypersensitivity (sound, light and touch)7

There is no known association between hEDS and brittle bones, arthritis, retinal haemorrhage, Chiari malformation, epilepsy, ADHD or autism.

Implications for practice

  1. Paediatricians and adolescent physicians should use the current EDS2017 criteria to correctly diagnose hEDS5 (pages 17-19).
  2. Health professionals and families should be advised that there is no clear collagen or other connective tissue abnormality underlying hEDS.
  3. Understand that persistent musculoskeletal pain (with or without joint laxity) is known to be associated with other symptoms and signs (including altered bowel habit, profound dizziness, nausea, anxiety, blurred vision and hypersensitivity).
  4. Clinical findings including fractures, retinal haemorrhages and extensive bruising cannot, as evidence currently stands, be attributed to hEDS. These must be investigated further to exclude other diagnoses and ensure that children are safeguarded. 
  5. All children and adolescents with hEDS, where symptoms are significant, should receive early multidisciplinary assessment and therapy within a paediatric/adolescent rehabilitative setting which encourages mobility and normal functioning including emotional wellbeing. 

Supporting organisations

This position statement is supported by the following organisations: 

  • British Association for Community Child Health (BACCH)
  • British Congenital Cardiac Association (BCCA)
  • British Society of Paediatric Gastroenterology (BSPGHAN)
  • British Society for Rheumatology (BSR)
  • The Barbara Ansell National Network for Adolescent Rheumatology (BANNAR)
  • Young People’s Health Special Interest Group (YPHSIG)

Key resource

The EDS2017 criteria can be found within the following reference (on pages 17-19):

Malfait F et al. The 2017 International classification of Ehlers-Danlos Syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. (Last accessed March 2019).

  • 1. Leone V, Tornese G, Zerial M et al. Joint hypermobility and its relationship to musculoskeletal pain in schoolchildren: a cross sectional study. Arch Dis Child. 2009; 627-632
  • 2. Clinch J, Deere K, Sayers A, Clark E, Tobias JH. Epidemiology of generalised joint laxity (hypermobility) in fourteen year old children from the UK: a population based evaluation. Arthritis Rheum. 2011; 2819-2827
  • 3. Tobias JH, Deere K, Clark E, Clinch J. Joint hypermobility is a risk factor for musculoskeletal pain during adolescence: findings of a prospective study. Arthritis Rheum. 2013;1107-1115
  • 4. Scheper MC, de Vries JE, Verbunt J, et al. Chronic pain in hypermobility syndrome and Ehlers Danlos syndrome (hypermobility type): it is a challenge. J Pain Res. 2015;591-601
  • 5. a. b. c. Malfait F et al. The 2017 International classification of Ehlers-Danlos Syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26
  • 6. Beighton P, Solomon L, Soskolne CL. Articular mobility in an African population. Ann Rheum Dis. 1973;413-418
  • 7. Rajapakse D, Liossi C, Howard RF. Presentation and management of chronic pain. Arch Dis Child. 2014 May;99(5):474-80