Decoding the Flexibility Enigma: Understanding Joint Hypermobility Syndrome

Medically reviewed by Brandon Colby, MD, last reviewed Oct 16, 2026

Short answer: Joint hypermobility syndrome means your joints move beyond the normal range, which can bring pain, dislocations and a higher risk of injury. Doctors diagnose it with a physical exam, your medical history and tools such as the Beighton score. Genetic testing can help tell it apart from conditions like Ehlers-Danlos or Marfan syndrome.

Update coming in December 2026: The criteria used to diagnose Ehlers-Danlos syndrome (EDS) and hypermobility spectrum disorders (HSD) are being updated for the first time since 2017. If you already have a diagnosis, you do not need to be reevaluated just because the classification is changing. Read our EDS diagnostic criteria update to see what changes for you.

Joint hypermobility syndrome, also known as benign joint hypermobility syndrome (BJHS), is a condition where the joints are more flexible than normal, allowing for a greater range of motion. While this may seem like a desirable trait, it can also lead to various health issues, such as joint pain, dislocations, and an increased risk of injury. This article dives into understanding, diagnosing, and using genetic testing for joint hypermobility syndrome.

Understanding Joint Hypermobility Syndrome

Joint hypermobility is often a genetic condition, with several studies exploring its connection to genetic differences in connective tissues. For instance, a study suggests that genetic differences in connective tissues may predispose individuals to pelvic organ prolapse and urinary incontinence, particularly in women with benign joint hypermobility syndrome. Another study examines the relationship between joint hypermobility, central sensitization, and autonomic nervous system dysfunction in adolescents.

Joint hypermobility syndrome can be associated with other conditions, such as Ehlers-Danlos Syndrome (EDS), which is a group of inherited disorders affecting connective tissues. A review of the conservative multidisciplinary approach to treating chronic pain in EDS patients includes physiotherapy, occupational therapy, cognitive behavioral therapy, and pharmacologic interventions.

Diagnosing Joint Hypermobility Syndrome

Diagnosing joint hypermobility syndrome typically involves a physical examination and a detailed assessment of the patient's medical history. A healthcare professional will assess the range of motion in the patient's joints and may use a scoring system, such as the Beighton score, to determine the degree of joint hypermobility.

Additional tests may be conducted to rule out other conditions that could cause joint hypermobility, such as Marfan syndrome or EDS. In some cases, a case report of a patient with camptodactyly and benign joint hypermobility syndrome presents with fixed flexion deformity of fingers, joint hyperextensibility, and striae, further complicating the diagnostic process.

Genetic Testing for Joint Hypermobility Syndrome

The Role of Genetic Testing in Diagnosis

Genetic testing can be a valuable tool in diagnosing joint hypermobility syndrome, particularly when it comes to differentiating it from other connective tissue disorders. By analyzing specific genes associated with these conditions, healthcare professionals can provide a more accurate diagnosis and tailor treatment plans accordingly.

Identifying Genetic Predisposition

Genetic testing can also help identify individuals who may have a genetic predisposition to joint hypermobility syndrome. This information can be particularly useful for family members of affected individuals, as it may inform them of their own risk and help them take preventive measures to reduce the likelihood of developing joint hypermobility-related complications.

Informing Treatment and Management Strategies

Understanding the genetic basis of joint hypermobility syndrome can inform treatment and management strategies for individuals living with the condition. For example, healthcare professionals may recommend specific physiotherapy exercises or lifestyle modifications based on the patient's genetic profile, ultimately improving their quality of life and reducing the risk of complications.

Advancing Research and Understanding

Genetic testing plays a crucial role in advancing research and understanding of joint hypermobility syndrome, as well as other connective tissue disorders. By identifying the genetic factors that contribute to these conditions, researchers can develop more targeted therapies and improve the overall understanding of the mechanisms underlying joint hypermobility.

In conclusion, joint hypermobility syndrome is a complex condition influenced by genetic factors. Understanding, diagnosing, and using genetic testing for this condition can help healthcare professionals provide more accurate diagnoses, inform treatment plans, and advance research in this field. If you or a loved one suspect you may have joint hypermobility syndrome, consult with a healthcare professional to discuss your concerns and explore the potential benefits of genetic testing.

What Is the December 2026 EDS Diagnostic Criteria Update?

The Ehlers-Danlos Society is expected to publish an updated classification framework for the Ehlers-Danlos syndromes and hypermobility spectrum disorders in December 2026, the first major update since 2017. If you already have a diagnosis, you do not need to be reevaluated solely because the classification is changing. The update is also expected to revisit how hypermobile EDS and hypermobility spectrum disorders are defined. Current public findings have not identified a reliable molecular test for either, so they remain clinical diagnoses. See how Sequencing is preparing in our guide to the EDS classification update.

Research on Hypermobile EDS and Dysautonomia

Sequencing and the Norris Lab at the Medical University of South Carolina have opened a research study on hypermobile EDS (hEDS) and dysautonomia. If you already have whole genome sequencing with Sequencing, you can choose whether to take part. Participation is voluntary, data is de-identified, and individual results are not returned. Read why we are launching our patient driven genetic study for hypermobile Ehlers-Danlos syndrome and dysautonomia.

Get Tested With Whole Genome Sequencing

Our whole genome sequencing screens all genes known to be associated with Ehlers-Danlos syndromes. This includes the established genes linked to classical and vascular forms, as well as emerging research markers such as KLK15, which has a preliminary research link to hEDS. Hypermobile EDS and hypermobility spectrum disorders remain clinical diagnoses, so bring your results to a clinician who knows connective tissue disorders.

Shop All Whole Genome Sequencing Kit Bundles

Frequently Asked Questions About Joint Hypermobility Syndrome

What is joint hypermobility syndrome?

Joint hypermobility syndrome, also called benign joint hypermobility syndrome (BJHS), is a condition where the joints are more flexible than normal and move through a greater range of motion. It can lead to joint pain, dislocations and a higher risk of injury.

How is joint hypermobility syndrome diagnosed?

Diagnosis usually involves a physical exam and a detailed medical history. A healthcare professional checks the range of motion in your joints and may use a scoring system such as the Beighton score. More tests may be done to rule out other conditions, such as Marfan syndrome or Ehlers-Danlos syndrome.

Is joint hypermobility genetic?

It is often genetic. Studies have linked differences in connective tissue genes to joint hypermobility, and it can run in families.

Is joint hypermobility the same as Ehlers-Danlos syndrome?

No, but the two can be related. Joint hypermobility can occur alongside Ehlers-Danlos syndrome (EDS), a group of inherited disorders that affect connective tissue. Doctors may order tests to tell them apart.

Can genetic testing diagnose joint hypermobility syndrome?

Diagnosis is mainly based on an exam and your history. Genetic testing can help tell joint hypermobility apart from other connective tissue disorders, and it can help family members understand their own risk. A doctor can explain what a result does and does not mean.

How is joint hypermobility treated?

Care is tailored to each person. For chronic pain in people with Ehlers-Danlos syndrome, a published review describes a multidisciplinary approach that includes physiotherapy, occupational therapy, cognitive behavioral therapy and medicines. Your doctor may also suggest specific exercises or lifestyle changes.

Does Sequencing test for joint hypermobility syndrome?

There is no single test for joint hypermobility syndrome. Sequencing's whole genome sequencing reads 100% of your DNA, so your results can be reviewed for genes linked to connective tissue conditions such as Ehlers-Danlos and Marfan syndrome. Bring your results to a doctor who knows connective tissue disorders.

References

Whalen K, Crone W. Multidisciplinary approach to treating chronic pain in patients with Ehlers-Danlos syndrome: critically appraised topic. J Pain Res. 2022;15:2893-2904. doi:10.2147/JPR.S377790
Nishanth S, Ushagowry S. Case report of camptodactyly with benign joint hypermobility syndrome. Cureus. 2022. doi:10.7759/cureus.26148

This article is for education and is not a substitute for professional medical advice, diagnosis, or treatment. Talk to a qualified healthcare provider about your own health.