2023 Diagnostic Framework for Pediatric Joint Hypermobility

Hypermobile Ehlers–Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) can affect many different areas of the body and can be debilitating. The cause(s) of hEDS and HSD are unknown, so these conditions are diagnosed using clinical diagnostic criteria.

The Pediatric Working Group of the International Consortium on Ehlers-Danlos Syndromes (EDS) and Hypermobility Spectrum Disorders (HSD) met over 2020–2022 to review the challenges of diagnosing children and adolescents using the 2017 diagnostic criteria for hEDS which were developed for adults.

In May 2023, the group of experts published a new diagnostic framework that can be used to assess people from five years old through to biological maturity. Biological maturity is marked by the completion of puberty and bone growth or when a person reaches eighteen years old, whichever happens first.

Under the new diagnostic guidelines, children with generalized joint hypermobility can fit into one of the following eight categories of subtypes, depending on the presence of:

  • Musculoskeletal complications
  • Skin and tissue abnormalities
  • Comorbidities

Pediatric Diagnostic Categories

Pediatric Generalized Joint Hypermobility [pGJH] Subtypes Musculoskeletal Complications Skin and Tissue Abnormalities Core Comorbidities
Pediatric generalized joint hypermobility Absent Absent Absent
Pediatric generalized joint hypermobility with skin involvement Absent Present Absent
Pediatric generalized joint hypermobility with core comorbidities Absent Absent Present
Pediatric generalized joint hypermobility with core comorbidities and with skin involvement Absent Present Present
Pediatric Generalized Hypermobility Spectrum Disorder [pgHSD] Subtypes Musculoskeletal Complications Skin and Tissue Abnormalities Core Comorbidities
Pediatric generalized hypermobility spectrum disorder, musculoskeletal subtype Present Absent Absent
Pediatric generalized hypermobility spectrum disorder, musculoskeletal subtype with skin involvement Present Present Absent
Pediatric generalized hypermobility spectrum disorder, systemic subtype Present Absent Present
Pediatric generalized hypermobility spectrum disorder, systemic subtype with skin involvement Present Present Present
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The diagnostic framework has five key considerations when assessing children and adolescents with joint hypermobility:

1. Is generalized joint hypermobility present?

The Beighton Score assesses joint hypermobility on a 9-point scale. One point is given for each of the following joints that show hypermobility on exam:

  • Base of the right 5th (pinky) finger
  • Base of the left 5th (pinky) finger
  • Base of the right thumb
  • Base of the left thumb
  • Right elbow
  • Left elbow
  • Right knee
  • Left knee
  • Lower spine

A Beighton score greater than or equal to 6 points is evidence of GJH in children before puberty. However, children may also have hypermobility in joints that are not measured by the Beighton score. Each symptomatic joint should be properly assessed and managed.

2. Are musculoskeletal complications present? 

Joint hypermobility is sometimes associated with issues and injuries of the joints and soft tissues. A person is considered to have musculoskeletal complications if they have two or more of the following:

  • Episodic activity-related pain that is not chronic in frequency or duration
  • Recurrent joint dislocations, recurrent joint subluxations in the absence of trauma, and/or frank subluxation on physical exam in more than one joint
  • Soft tissue injuries — one major (needing surgical repair) and/or current multiple minor tendon and/or ligament tears

3. Is the person affected by comorbidities? 

Comorbidities are other health conditions that sometimes occur alongside joint hypermobility and can further impact quality of life. A person is considered to have core comorbidities if they are distressed or disabled by any of the following:

4. Is there skin and tissue involvement? 

Some people with joint hypermobility have unusual skin symptoms and characteristics. Skin involvement occurs when three or more of the following are present:

  • Unusually soft skin
  • Mild skin hyperextensibility
  • Unexplained stretch marks
  • Atrophic scarring
  • Bilateral piezogenic papules of the heel
  • Recurrent hernia or hernia in more than one site

5. Have other conditions that could cause the person’s symptoms been excluded?

The hypermobility spectrum disorders can only be diagnosed after all other possible explanations for the person’s symptoms are ruled out. This includes genetically-defined types of Ehlers-Danlos syndrome, other heritable connective tissue disorders, syndromic conditions, chromosomal microdeletions, skeletal dysplasia, and neuromuscular disorders.

The diagnostic flowchart below can be used to classify generalized joint hypermobility in children and adolescents:

  Download as a PDF

Key differences between the adult and pediatric diagnostic guidelines:

  • Prepubescent children cannot be diagnosed with hypermobile Ehlers-Danlos syndrome (hEDS) under the new guidelines.
  • Generalized joint hypermobility is evidenced by a Beighton score of 6 or greater in children. This is one point higher than the threshold for adults because children are typically more hypermobile than adults.
  • Eight new classification categories are introduced.
  • Core comorbidities have been added to reflect the additional disability they cause. The comorbidities described in the framework reflect those where there was reasonable scientific evidence of association at the time the framework was written.
  • Fewer tissue findings are included in the diagnostic framework for children compared to adults. The symptoms included were those most relevant to children and adolescents.
  • The pediatric diagnostic framework allows for children to be classified into categories based on their symptoms. This provides a foundation of addressing each child’s individual needs.

FAQs

Can a young person’s diagnosis change over time?

Yes. The diagnostic categories are designed to be dynamic. A young person can change categories if their symptoms change. Once a young person is biologically mature they should be assessed using the 2017 hEDS criteria to determine if they have hEDS.

If a child was diagnosed with hEDS before the criteria were updated, do they need to be reevaluated using the new framework?

No. If a child was diagnosed with hEDS before the new criteria were published, it is not necessary for them to be reassessed unless their doctor feels it is necessary.

How does this update effect children who have localized or peripheral joint hypermobility?

The new diagnostic framework is used to classify children with generalized joint hypermobility. Children with localized or peripheral joint hypermobility do not fall into one of the new classification categories but may still be diagnosed with localized or peripheral HSD if they have symptomatic joint hypermobility with a negative Beighton score.

Can children under five be assessed using the new pediatric framework?

Five years old is the minimum age at which generalized joint hypermobility should be assessed. Infants and toddlers do not have sufficient bone maturity for a meaningful clinical assessment.

Are there ICD codes which are applicable to the new classifications?

All the symptoms and concerns seen in HSD have ICD-10 codes which can be used even though the term HSD itself is not coded in ICD-10 yet. ICD-10 codes remain in use in 2023 even though ICD-11 has been published.

Some codes, for example, are broad e.g., joint pain, muscle pain, nerve pain, and soft tissue disorders. Within these codes there are then detailed subcodes to choose from for individual joints, types of soft tissue injury etc., that your doctors and therapists can choose to best describe the nature of your concerns. The same is true for the comorbidities. All the body system codes start with a letter. For example:

G = disorders and disease of the nervous system, including autonomic

K = disorders and diseases of the digestive system

L = diseases of the skin

M = musculoskeletal and connective tissue

N = disorders and diseases of the urinary system

Here, as just one example, is a set of ICD-10 codes a doctor might use to describe joint, soft tissue, POTS, and constipation concerns in a person with HSD:

G90 = postural tachycardia syndrome and postural hypotension

K59.01 = slow transit constipation

M25.5 = joint pain

M35.7 = hypermobility, ligament laxity, syndrome

M70 = Soft tissue disorders related to use, overuse, and pressure

(note, the codes may vary slightly between version updates of the ICD-10, but the main structure for identifying a code has not changed)

ICD-11 was introduced in 2022. Not all countries and not all organizations in a country will be using ICD-11 yet. The codes are different, but the principles for describing all the concerns in HSD are the same. For example, joint hypermobility is VV60, and soft tissue disorders are FB codes.

The Ehlers-Danlos Society has made a request to the ICD committee to have hypermobility spectrum disorder included as an ICD code in its own right.

Resources for health professionals:

  • A printable version of the 2023 Diagnostic Criteria for Pediatric Joint Hypermobility can be found here as a checklist. The full paper can be found here with an option to download as a PDF to print.
  • The Ehlers-Danlos Society has a dedicated helpline for information. Health professionals can email using the online form found here.
  • EDS ECHO programs and courses are open to health professionals worldwide, across all disciplines who want to improve their ability to care for people with HSD, EDS, and associated symptoms and conditions. CME/CEU/CE credits are available to attendees. Learn more about EDS ECHO here. Find upcoming Pediatric ECHO programs here.
  • View event recordings and discussions from past events from The Ehlers-Danlos Society here.
  • Find upcoming event information here.
  • The AHEAD Coalition – Action for Children & Young People with EDS & HSD Accurate Diagnosis includes representatives from groups and organizations involved in the welfare of children and young people and their families. Learn more about the coalition here.

Resources for parents:

  • A printable version of the 2023 Diagnostic Criteria for Pediatric Joint Hypermobility can be found here as a checklist to take to your doctor. The full paper can be found here with an option to download as a PDF to print.
  • The Ehlers-Danlos Society has a dedicated helpline for support and information. You can email using the online form found here.
  • Our Global Health Professionals Directory can be found here. You can search by country, region, and specialty.
  • Join our quarterly virtual support group for parents which takes place on Zoom. Find upcoming dates and register here.
  • View upcoming events from The Ehlers-Danlos Society here. All events have the option to attend virtually, and the annual Global Learning Conference has a dedicated in-person Junior Zebras track for children and teens aged 6-17.
  • View event recordings and discussions from past events from The Ehlers-Danlos Society here.

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