Hypermobile Ehlers-Danlos syndrome (hEDS) is diagnosed entirely through clinical evaluation, not a blood test or genetic marker. The process follows a three-part checklist established in 2017, and all three criteria must be met: generalized joint hypermobility, a collection of systemic features affecting skin, body structure, and family history, and the exclusion of other conditions that look similar. There is no single test that confirms hEDS, which is one reason the average patient waits years before getting a diagnosis.
Criterion 1: The Beighton Score
The first requirement is demonstrating generalized joint hypermobility, measured with a 9-point scoring system called the Beighton score. A clinician checks five types of movement on both sides of your body: bending each pinky finger backward past 90 degrees (one point per side), touching each thumb to the forearm (one point per side), straightening each elbow past 180 degrees (one point per side), straightening each knee past 180 degrees (one point per side), and placing your palms flat on the floor with straight legs (one point). The maximum score is 9.
The threshold for a positive result depends on your age. Adults generally need a score of 4 or higher, while children need 5 or higher because kids are naturally more flexible. This distinction matters because joint mobility decreases significantly with age. In one study of 200 people over age 70, no one scored higher than 2. Research has also found that after about age 33, most people with confirmed hypermobility disorders no longer reach the standard cutoff of 4, which raises questions about whether this test catches everyone it should.
If your Beighton score falls just below the threshold, your doctor may still consider you positive if you have a history of hypermobility that has decreased with age or injury. A five-point questionnaire about past flexibility (such as whether you could do the splits or put your hands flat on the floor as a child) can supplement the Beighton score in these cases.
Criterion 2: Systemic Features, Family History, and Complications
Passing the Beighton score alone isn’t enough. Criterion 2 requires at least two of three features, labeled A, B, and C. This is the most detailed part of the evaluation.
Feature A: Connective Tissue Signs
You need five or more of the following twelve signs, which reflect a broader connective tissue disorder beyond just flexible joints:
- Unusually soft or velvety skin, assessed without moisturizer and held to a high threshold
- Mild skin hyperextensibility, measured by gently pulling the skin on the inner forearm. Normal stretch is up to 1.5 cm; stretching beyond that counts. If skin stretches past 2 cm, your doctor should consider other forms of EDS
- Unexplained stretch marks on the back, groin, thighs, breasts, or abdomen, particularly in adolescents, men, or girls before puberty who haven’t had significant weight changes
- Piezogenic papules on both heels, small herniations of fat under the skin that become visible when you stand
- Recurrent or multiple hernias (umbilical, inguinal, or femoral, but not hiatal)
- Atrophic scarring at two or more sites, meaning scars that are unusually shallow or wider than the original wound
- Pelvic floor, rectal, or uterine prolapse in children, men, or women who haven’t given birth
- Dental crowding and a high or narrow palate (both must be present, and prior orthodontic work counts)
- Long, slender fingers (arachnodactyly), confirmed by specific wrist and thumb signs on both hands
- Arm span-to-height ratio of 1.05 or greater
- Mitral valve prolapse, confirmed by echocardiogram
- Aortic root dilation, measured as more than 2 standard deviations above the mean for your body size
Feature B: Family History
A positive family history counts if at least one first-degree relative (parent, sibling, or child) independently meets the current diagnostic criteria for hEDS. Because hEDS follows an autosomal dominant inheritance pattern, it tends to run directly through families.
Feature C: Musculoskeletal Complications
This feature looks for pain and instability caused by hypermobility. It requires at least one of the following: daily musculoskeletal pain in two or more limbs lasting at least three months, chronic widespread pain for at least three months, or recurrent joint dislocations or subluxations (partial dislocations) without a history of trauma.
Criterion 3: Ruling Out Other Conditions
The final criterion is exclusionary. Your doctor must rule out other disorders that cause joint hypermobility before confirming hEDS. This is a critical step because dozens of conditions share overlapping features.
Connective tissue and skeletal disorders are the most common lookalikes. Conditions like Loeys-Dietz syndrome, Larsen syndrome, and cutis laxa can all cause joint laxity. Red flags that point toward these alternatives include a family history of aortic disease or sudden cardiac death, retinal detachment, brittle bones, or significant dental abnormalities beyond simple crowding.
Neuromuscular conditions also need to be considered. Joint laxity can appear as either a primary or secondary feature of certain muscle disorders, including collagen VI-related myopathy and several other inherited conditions affecting muscle function. If you have muscle weakness alongside hypermobility, neurological evaluation and genetic testing become important.
Inflammatory and immune disorders round out the list. Chronic inflammation can compromise ligament integrity over time, producing acquired joint laxity that mimics hEDS. Conditions like hereditary alpha-tryptasemia and certain immunodeficiency disorders have been found in significant numbers among patients initially suspected of having hEDS. Genetic testing for these conditions is often part of the workup, especially when features don’t fit neatly into the hEDS framework. The other subtypes of EDS (classical, vascular, and others) must also be excluded, typically through genetic testing since those types have known gene mutations.
hEDS Versus Hypermobility Spectrum Disorders
Not everyone with symptomatic hypermobility meets all three criteria for hEDS. When the 2017 criteria were established, the diagnostic committee recognized they were intentionally more restrictive than older systems, meaning some people who would have qualified under previous guidelines would now fall short. For these individuals, the diagnosis is hypermobility spectrum disorder (HSD).
HSD isn’t a lesser diagnosis. Research shows that people with HSD can experience the same types of physical and mental impairments as those with hEDS, including chronic pain, fatigue, and joint instability. The distinction exists primarily for research classification. In practice, treatment and management are the same for both conditions.
Who Performs the Evaluation
Getting to the right specialist is often the hardest part of the process. Medical geneticists are the most commonly trained to evaluate for hEDS, and they’re typically the ones who perform the full three-criteria assessment. Rheumatologists can also evaluate joint hypermobility, though not all are familiar with the 2017 hEDS criteria specifically. Physical medicine and rehabilitation specialists sometimes play a role in the diagnostic team as well.
At major centers like Mayo Clinic, hEDS evaluations may involve a team spanning medical genetics, physical medicine, and surgical specialties as needed. However, access to knowledgeable specialists varies widely by region. Many patients find it helpful to arrive at their appointment with documentation of their Beighton score, a list of relevant symptoms, and any imaging or cardiac studies they’ve already completed.
Criteria Updates in Progress
The 2017 criteria remain the current standard, but a formal review is underway. The International Consortium on EDS and HSD is refining the diagnostic framework to make it more accurate, inclusive, and practical. Early findings from this review confirm that hEDS and HSD exist on a shared biological spectrum with overlapping features, which may eventually change how the two are classified. Clinical testing of a revised diagnostic model is expected to begin in late 2025, with final recommendations projected for publication in December 2026.