How Are Hypermobility and EDS Diagnosed? The Complete Guide to All 13 Types

Why EDS Diagnosis Is Still So Confusing (And Why That’s Not Your Fault)

If you’ve been on the hunt for an Ehlers-Danlos Syndrome diagnosis, you’ve probably encountered a wall of confusing terminology, conflicting information online, and clinicians who have wildly different ideas about what EDS actually is. You’re not imagining the chaos. The classification of EDS has genuinely changed multiple times in recent decades, and not every doctor has kept up. On top of that, a lot of the information circulating online is outdated, covering only a fraction of the recognised types. We’ve even seen posts that list just seven of the thirteen types, which means people searching for answers might be reading about a condition that doesn’t quite match their experience, or missing the diagnosis that fits them best.

So let’s fix that. This is the complete guide to all 13 recognised types of Ehlers-Danlos Syndrome, how each one is diagnosed, what distinguishes them from one another, and, crucially, how to actually go about getting a diagnosis. Whether you’ve been recently diagnosed, are currently seeking answers, or are supporting someone who is, this post will give you a solid, up to date foundation.

A Brief History: How EDS Classification Has Changed

EDS has been recognised as a distinct condition for well over a century, but the way it’s been classified has shifted significantly over time. Understanding that history helps explain why there’s so much confusion, and why information from even a decade ago might be misleading.

The Roman numeral system. For most of the latter half of the 20th century, EDS was categorised using Roman numerals, Types I through XI. The 1988 Berlin nosology set out 11 subtypes on that basis ^[1]. This system was based primarily on how conditions looked clinically rather than on any understanding of the underlying genetics. It was a reasonable starting point, but it lacked precision and led to a lot of overlap between types.

The Villefranche Nosology. A group of experts met in Villefranche, France, and the classification they produced, which came out in 1998, simplified EDS into six types: Classical, Hypermobility, Vascular, Kyphoscoliotic, Arthrochalasia, and Dermatosparaxis ^[1]. This was a big improvement. It introduced clearer major and minor diagnostic criteria, and started to incorporate genetic findings where they were available. But genetics was advancing rapidly, and this system was already becoming outdated by the time it was published. Crucially, it still couldn’t explain hypermobile EDS, which had no confirmed genetic cause then and still doesn’t today.

The 2017 International Classification. In 2017, the International EDS Consortium published a landmark paper in the American Journal of Medical Genetics that is still the operative framework today ^[1]. It is not uncontested. Several groups have published criticism of it, arguing that it is too stringent, insufficiently validated, or unable to capture the multisystem burden people actually present with, and some have published proposed modifications ^[2][3]. No replacement international classification has been adopted. This new classification expanded EDS to 13 distinct subtypes, incorporating two decades of genetic discoveries and clinical research. It introduced rigorous diagnostic criteria for each type, tightened the criteria for hypermobile EDS specifically to improve diagnostic accuracy, and introduced the concept of Hypermobility Spectrum Disorders (HSD) to describe people with symptomatic hypermobility who don’t fully meet the hEDS criteria. If you’re reading anything about EDS that doesn’t reference this 2017 framework, treat it with caution. For the latest on this, see our article on the 2026 EDS classification update. Symptoms can also differ by subtype in ways the label alone will not tell you: throat and voice symptoms differ by subtype is a good worked example of that.

The 13 Types of Ehlers-Danlos Syndrome

One thing to say about the numbers before we start. For hEDS, and for EDS and HSD taken together, there are population studies to quote. For the ten rarer subtypes there mostly are not: the sources describe them through one-off reports and small collections of people rather than by counting them in a population. So where this article calls a subtype rare, that is what the sources say, not a measured frequency ^[1][4].

Under the current 2017 classification ^[1], there are 13 recognised subtypes of EDS. They vary enormously in how common they are, how they’re diagnosed, and what they look like clinically. We’ve listed them in order of how commonly they’re encountered, starting with the one that’s by far the most relevant to our community here.

1. Hypermobile EDS (hEDS)

Gene: Unknown. hEDS is the only one of the 13 subtypes without a confirmed genetic cause ^[1].

How common: The figures you will see quoted are tidier than the evidence behind them. The best population numbers count codes in health records rather than people assessed against the 2017 criteria. A Welsh national electronic cohort of linked primary care and hospital records from 1990 to 2017 found 6,021 people coded for EDS or joint hypermobility syndrome, a diagnosed point prevalence in 2016/17 of 194.2 per 100,000, or roughly 1 in 500 ^[5]. A Danish national registry study of coded EDS of any type, with no subtype split, found 1,427 people, about 1 in 5,000 ^[6]. An audit of 30 GP surgeries in Northumberland covering around 300,000 people found 4.4 per 1,000, about 1 in 227, using terms synonymous with hEDS and HSD, and that one is a conference abstract rather than a full paper ^[7].

hEDS is described throughout the literature as the most common subtype ^[8], and two figures get attached to that which are less solid than they sound. The Welsh dataset found only 12 per cent of coded EDS carrying the hypermobile subcode, with the caveat, stated in the paper itself, that subtype coding was unreliable and that most cases carried only the unspecific header code, so that is not a subtype proportion either ^[5]. The figure of 1 in 3,100 turns up in a 2026 registry report as background rather than as a finding of its own, and it comes with the warning that cohort frequencies there cannot be used to infer population prevalence ^[9]. What the coded data do support is that hEDS and HSD together are common enough to turn up in ordinary general practice ^[5].

hEDS is the type most people in our community are dealing with, and it’s also the one with the most complicated diagnostic journey, partly because there’s no genetic test to confirm it, and partly because the criteria are quite specific. Diagnosis is entirely clinical, meaning it’s based on examination and history, not lab results. And because it lacks a genetic marker, some doctors remain sceptical about it, which is genuinely frustrating for people who are living with very real, very disabling symptoms.

The 2017 criteria for hEDS require you to meet all three of the following criteria simultaneously ^[1]:

Criterion 1: Generalised Joint Hypermobility (GJH)

This is typically assessed using the Beighton Score (explained in detail below). The score thresholds that count towards hEDS are:

– 6 or more out of 9 for pre-pubertal children and adolescents

– 5 or more out of 9 for pubertal men and women up to the age of 50

– 4 or more out of 9 for adults over 50

If your score is one point below the threshold for your age group, you can still meet Criterion 1 by answering yes to two or more items on the five-point questionnaire, a short set of questions about your history of hypermobility. Sensitivity for that cut-off is put at 80 to 85 per cent and specificity at 80 to 90 per cent, and it has not been validated in children ^[1].

Criterion 2: Two or more of Features A, B, and C

You need to meet at least two of the following three features:

Feature A. Manifestations of a connective tissue disorder (at least 5 of the following 12 must be present):

– Unusually soft or velvety skin

– Mild skin hyperextensibility

– Unexplained stretch marks (striae distensae or rubrae) on the back, groins, thighs, breasts, or abdomen, in adolescents, men, or pre-pubertal women without significant weight change

– Bilateral piezogenic papules of the heel (small fat herniations that appear when you stand)

– Recurrent or multiple abdominal hernias

– Atrophic scarring at two or more sites (without the papyraceous or hemosideric quality seen in classical EDS)

– Pelvic floor, rectal, or uterine prolapse in children, men, or women who haven’t had pregnancies, without an obvious cause

– Dental crowding and a high or narrow palate

– Arachnodactyly, long, slender fingers, assessed by the wrist sign (Steinberg sign) or thumb sign (Walker sign), positive on both sides

– Arm span-to-height ratio of 1.05 or greater

– Mitral valve prolapse (mild or greater, confirmed by echocardiogram)

– Aortic root dilatation (Z-score above +2)

Feature B. Positive family history: At least one first-degree relative (parent, sibling, or child) who independently meets the current criteria for hEDS.

Feature C. Musculoskeletal complications (at least one of the following):

– Musculoskeletal pain in two or more limbs, recurring daily for at least three months

– Chronic, widespread pain for three months or more

– Recurrent joint dislocations or frank joint instability without trauma (defined as three or more atraumatic dislocations in the same joint, or two or more atraumatic dislocations in two different joints at different times, or medical confirmation of instability at two or more sites)

Criterion 3: All three of the following must be met

– Absence of unusual skin fragility (if this is present, it raises the possibility of another EDS type, particularly classical EDS)

– Exclusion of other heritable or acquired connective tissue disorders, including autoimmune rheumatological conditions such as lupus or rheumatoid arthritis

– Exclusion of other diagnoses that can cause hypermobility, such as neuromuscular disorders, Marfan syndrome, Loeys-Dietz syndrome, or osteogenesis imperfecta

It’s worth noting that if you have an acquired connective tissue disorder like lupus or RA alongside features suggestive of hEDS, you can still receive an hEDS diagnosis, but you need to meet both Feature A and Feature B of Criterion 2, and Feature C (pain and instability) can’t be counted in that situation.

The key takeaway here: hEDS is diagnosed on clinical grounds only. There is no blood test, no genetic panel, no biomarker. This is a clinical diagnosis made by a knowledgeable clinician who takes a thorough history and performs a careful examination. If someone tells you that you can rule out hEDS with a genetic test, that’s not accurate.

The genetics is not standing still, though. A 2021 appraisal of the published candidate gene work found the reports sparse, conflicting and poorly replicated ^[10]. A 2023 exome study of 174 people with diagnostically unresolved EDS supported genetic heterogeneity and moved some of them into other Mendelian diagnoses, but it did not find a single replicated hEDS gene ^[11]. In 2025, pooled genetic data from 1,815 people with hEDS and 5,008 controls turned up the first common variant signals to reach genome-wide significance, and that work is still a preprint and has not been replicated in an independent published cohort ^[12]. None of that changes how hEDS is diagnosed today.

If hEDS is affecting your day-to-day life, you might also find it useful to read about managing the flare-ups that come with connective tissue conditions and what the long-term picture looks like for people with EDS.

2. Classical EDS (cEDS)

Genes: COL5A1 and COL5A2 (responsible for type V collagen). More than 90 per cent of people with cEDS carry a heterozygous mutation in one of those two ^[1]. Rare cases are linked to a specific variant in COL1A1.

How common: One of the commoner rare subtypes ^[4]. You will see 1 in 20,000 to 40,000 quoted for it. That range is a repeated estimate, and the reviews cited here do not trace it back to a population study ^[4].

Inheritance: Autosomal dominant (one copy of the altered gene is enough to cause the condition).

Classical EDS is the type most people picture when they hear “EDS”, the stretchy skin, the atrophic scarring, and joint hypermobility are its hallmarks. The skin in cEDS is often described as doughy or velvety, and it extends noticeably further than normal. Crucially, the scarring in cEDS tends to be quite distinctive: wide, papery scars with a thin, wrinkled quality, often described as “papyraceous” (like thin paper), particularly over areas that are prone to knocks like the knees, shins, and forehead.

Major diagnostic criteria include skin hyperextensibility with atrophic scarring, and generalised joint hypermobility. Minor criteria include easy bruising, soft or doughy skin texture, tissue fragility, molluscoid pseudotumors (fleshy outgrowths over pressure points), subcutaneous spheroids (small, hard, mobile nodules), and a family history of the condition.

Unlike hEDS, a genetic diagnosis is possible and recommended for cEDS. Molecular confirmation through genetic testing is the definitive way to confirm the diagnosis.

3. Vascular EDS (vEDS)

Gene: COL3A1 (type III collagen). Rare cases involve specific variants in COL1A1.

How common: Estimated at 1 in 50,000 to 1 in 200,000 ^[13][16]. That is an estimate repeated across reviews rather than a figure from a contemporary ascertainment study.

Inheritance: Autosomal dominant.

vEDS is the most serious of all 13 types, and it’s important to understand why. Type III collagen is a critical structural component of blood vessels, the bowel wall, and the uterus. When the COL3A1 gene is affected, these structures become fragile and prone to rupture, sometimes spontaneously and without warning. The timing is worth getting right, because the figure that circulates is too young. Across 215 molecularly confirmed cases, the median age at first major complication was 29 ^[14]. A review of 1,231 people carrying a heterozygous COL3A1 mutation reported a median survival of 51 years, which is a different endpoint and often gets quoted as though it were the same one ^[15]. In a Dutch national cohort of 142 people, by the age of 40 to 43, a first vascular, gastrointestinal or obstetric complication had occurred in 80 to 85 per cent of them ^[16].

The presentation of vEDS is often quite different from other EDS types. Skin hyperextensibility may be minimal or absent, and hypermobility tends to be confined to the small joints (fingers and toes) rather than being generalised. Instead, the distinguishing features are thin, translucent skin through which veins are easily visible, a characteristic facial appearance (thin nose, hollow cheeks, prominent eyes, lobeless ears), easy and extensive bruising, and a history of complications like spontaneous arterial dissection, organ rupture, or pneumothorax.

Major diagnostic criteria include a family history with a confirmed COL3A1 variant, arterial rupture in someone under 40, spontaneous sigmoid colon perforation, uterine rupture during a third-trimester pregnancy, and carotid-cavernous sinus fistula without trauma ^[16].

If vEDS is suspected, particularly in someone with a family history of unexplained vascular events or early deaths, genetic testing should be arranged urgently. This isn’t a type to wait and watch. Genetic confirmation guides management and allows screening of family members who may be at risk.

4. Classical-like EDS (clEDS)

Gene: TNXB (Tenascin XB protein).

How common: Rare, and described in the literature through one-off reports and small collections of people rather than counted in a population ^[1].

Inheritance: Autosomal recessive. This means both copies of the gene need to carry the variant for the condition to develop. In practice, this usually means both parents are unaffected carriers: they each have one working copy and one altered copy, and don’t have the condition themselves. When two carriers have a child, there’s a 25% chance per pregnancy that the child inherits both altered copies.

clEDS shares some features with classical EDS but has some important differences. The skin is hyperextensible and velvety, but, unlike cEDS, atrophic scarring is typically absent. Joint hypermobility is present and may lead to shoulder and ankle dislocations. Easy bruising and spontaneous ecchymoses (bruises without a clear cause) are also common.

Distinctive features of clEDS include foot deformities, lower limb swelling (lymphoedema-like oedema), mild to moderate muscle weakness, and changes to the hands including short fingers, clinodactyly (curved fingers), or an aged, wrinkled appearance of the skin on the hands.

Genetic testing confirms the diagnosis by identifying biallelic pathogenic variants in TNXB.

5. Cardiac-Valvular EDS (cvEDS)

Gene: COL1A2 (type I collagen). Specifically, biallelic mutations that prevent the pro-alpha-2 chain of type I collagen from being produced.

How common: Rare, with only a small number of cases reported in the medical literature ^[1].

Inheritance: Autosomal recessive (both parents are typically unaffected carriers, see the explanation under clEDS above).

The defining feature of cvEDS is severe, progressive cardiac valve disease, particularly affecting the aortic and mitral valves. This can include regurgitation (leaking) or stenosis (narrowing) and often requires surgical intervention. Skin involvement is present (hyperextensibility, atrophic scarring, thin or bruising skin), and joint hypermobility may also occur. Additional features include inguinal hernias, pectus (chest wall deformity), foot deformities, and joint dislocations.

Because the cardiac complications can be severe, early identification and cardiac monitoring are essential once this diagnosis is made or suspected.

6. Arthrochalasia EDS (aEDS)

Genes: COL1A1 and COL1A2 (type I collagen), specifically mutations that affect the cleavage site for N-terminal propeptide processing.

How common: Rare, and described through one-off reports and small collections of people rather than counted in a population ^[1].

Inheritance: Autosomal dominant.

aEDS is characterised by one particularly striking feature: congenital bilateral hip dislocation. This means babies with aEDS are typically born with both hips dislocated. Alongside this, there is severe generalised joint hypermobility with multiple dislocations, and skin hyperextensibility. Additional features include low muscle tone (hypotonia), kyphoscoliosis, mild osteopenia (reduced bone density), and tissue fragility.

The congenital hip dislocation is such a strong marker that its presence should prompt consideration of aEDS even in infancy, and genetic testing for COL1A1 or COL1A2 variants confirms the diagnosis.

7. Dermatosparaxis EDS (dEDS)

Gene: ADAMTS2.

How common: Rare, with only a small number of cases documented ^[1].

Inheritance: Autosomal recessive (both parents are typically unaffected carriers, see the explanation under clEDS above).

dEDS presents with extreme skin fragility. The skin tears easily and heals poorly, with significant bruising and haematoma formation. The skin has a characteristic appearance: redundant, lax, doughy, and often with increased palmar wrinkling. There may also be distinctive craniofacial features, growth retardation, short limbs and hands, and complications at birth related to the fragility of tissues.

The ADAMTS2 gene encodes an enzyme involved in procollagen processing, and when it’s absent or deficient, collagen fibres don’t form correctly, leading to the characteristic skin appearance and fragility. Genetic testing confirms the diagnosis.

8. Kyphoscoliotic EDS (kEDS)

Genes: PLOD1 (encoding lysyl hydroxylase 1) or FKBP14 (encoding FKBP22).

How common: Rare, and described through one-off reports and small collections of people rather than counted in a population ^[1].

Inheritance: Autosomal recessive (both parents are typically unaffected carriers, see the explanation under clEDS above).

The hallmarks of kEDS are congenital muscle hypotonia (low muscle tone present at birth), and progressive kyphoscoliosis (an abnormal curvature of the spine that develops in infancy or early childhood and tends to worsen over time). Generalised joint hypermobility with dislocations, particularly of the shoulders, hips, and knees, is also a major feature.

Eye involvement is a recognised feature of kEDS and can include blue sclerae (a bluish tint to the whites of the eyes), scleral fragility, corneal thinning, and an increased risk of globe rupture. Myopia and other refractive errors are also documented ^[1]. These features mean that ophthalmological assessment should be part of the diagnostic workup for anyone with suspected kEDS.

The PLOD1 and FKBP14 variants have slightly different clinical pictures alongside the shared core features. The PLOD1 form has a urinary screening test behind it, and the direction of the ratio matters because plenty of summaries have it inverted. The ratio of lysyl pyridinoline to hydroxylysyl pyridinoline, measured by HPLC, normally sits at about 0.2, and in PLOD1 kEDS it is roughly 10 to 40 times higher ^[1][17]. The same test comes back normal in the FKBP14 form ^[1], which is instead distinguished by hearing impairment and bladder diverticula ^[18]. Both are confirmed by genetic testing.

The progressive nature of the scoliosis in kEDS means early identification is important for management. Spinal curvature that isn’t monitored and addressed can become severely disabling.

9. Brittle Cornea Syndrome (BCS)

Genes: ZNF469 or PRDM5.

How common: Rare. The literature describes it through reported families and individual cases rather than a prevalence estimate, including a review of 85 reported cases ^[20].

Inheritance: Autosomal recessive (both parents are typically unaffected carriers, see the explanation under clEDS above).

Despite its name, BCS is classified within the EDS family because of the connective tissue involvement that extends beyond the eyes. The primary defining feature is corneal fragility. A central corneal thickness around or below 400 micrometres has been put forward as a robust diagnostic indicator ^[19], and corneas that thin are at high risk of rupture from relatively minor trauma. This can lead to serious sight-threatening complications. Additional eye features include keratoconus (cone-shaped cornea), keratoglobus (globe-shaped cornea), and blue sclerae (bluish discolouration of the whites of the eyes).

Beyond the eyes, BCS may cause hearing loss, hypercompliant tympanic membranes, hip dysplasia, scoliosis, hypotonia in infancy, arachnodactyly, and soft or velvety skin. Genetic testing confirms the diagnosis, and any suspected case should involve urgent ophthalmological assessment given the risk of corneal rupture.

10. Spondylodysplastic EDS (spEDS)

Genes: B4GALT7, B3GALT6, or SLC39A13.

How common: Rare, and described through one-off reports and small collections of people rather than counted in a population ^[1].

Inheritance: Autosomal recessive (both parents are typically unaffected carriers, see the explanation under clEDS above).

spEDS is characterised by a combination of short stature, muscle hypotonia, and bowing of the limbs. The “spondylodysplastic” element refers to abnormalities in how the spine and skeleton develop. The three different gene variants each produce a slightly different clinical picture alongside these core features.

The B4GALT7 form is associated with short stature and mild intellectual disability. The B3GALT6 form involves characteristic craniofacial features, abnormal spinal curvature, a mix of hypermobile and rigid joints, osteoporosis with fractures, and cognitive difficulties. The SLC39A13 form is somewhat milder, with moderate short stature, hyperelastic and thin skin with a visible venous pattern, and flat feet. Genetic testing is needed to confirm the diagnosis and identify which gene is affected.

11. Musculocontractural EDS (mcEDS)

Genes: CHST14 or DSE.

How common: Rare, and described through one-off reports and small collections of people rather than counted in a population ^[1].

Inheritance: Autosomal recessive (both parents are typically unaffected carriers, see the explanation under clEDS above).

mcEDS presents from birth or early childhood with congenital contractures (stiff, tightened joints that can’t move through their full range), particularly affecting the thumbs and fingers, along with talipes (clubfoot). In infancy and childhood, craniofacial features are prominent, including hypertelorism (widely spaced eyes), down-slanting eyes, a broad nasal bridge, large ears, and a high arched palate.

Skin involvement includes hyperextensibility, easy bruising, fragility, and abnormal scarring. As people with mcEDS age into adolescence and adulthood, additional features can emerge including progressive spinal deformity, recurrent joint dislocations, and eye complications. Genetic testing distinguishes mcEDS from other types and identifies which gene variant is responsible.

12. Myopathic EDS (mEDS)

Gene: COL12A1 (type XII collagen).

How common: Rare, and described through one-off reports and small collections of people rather than counted in a population ^[1].

Inheritance: Either autosomal dominant or autosomal recessive, depending on the specific mutation.

mEDS is distinguished from other EDS types by a pattern of muscle involvement that changes with age. In infancy and early childhood there is congenital hypotonia (low muscle tone) and muscle atrophy, and the 2017 classification lists improvement with age as a major criterion, which is one of the things that separates mEDS from the rest ^[1]. There are also proximal contractures (at the hips, knees, and elbows) alongside distal hypermobility (at the wrists, ankles, and fingers).

Type XII collagen plays a role in regulating the structure of tendons, ligaments, and muscle-related connective tissue. When it’s affected, this produces the distinctive combination of contractures proximally and hypermobility distally. Genetic testing confirms the diagnosis.

13. Periodontal EDS (pEDS)

Genes: C1R or C1S.

How common: Rare, and described through one-off reports and small collections of people rather than counted in a population ^[1].

Inheritance: Autosomal dominant.

pEDS has a very distinctive signature: severe, early-onset periodontitis (gum disease) that leads to significant tooth loss at a young age despite good oral hygiene. This isn’t ordinary gum disease. It’s aggressive, treatment-resistant, and often starts in childhood or adolescence. A lack of attached gingiva (the firm gum tissue that anchors to the tooth) is another key feature.

Additional features include pretibial plaques (skin lesions on the shins), easy bruising, fragile skin, and a family history consistent with autosomal dominant inheritance. pEDS is the only EDS type where the most prominent feature is dental rather than musculoskeletal, which means it’s particularly likely to be missed unless clinicians are aware of it. Genetic testing confirms C1R or C1S variants. If you’re experiencing severe early gum disease alongside any other connective tissue symptoms, it’s worth raising pEDS specifically with your dentist and GP.

Hypermobility Spectrum Disorders (HSD): The Related Diagnosis Worth Understanding

Introduced alongside the 2017 EDS classification, Hypermobility Spectrum Disorders (HSD) is a diagnosis for people who have symptomatic hypermobility but don’t meet the full criteria for any EDS type, most commonly, they don’t quite meet the criteria for hEDS ^[1][21].

This might sound like a lesser or lesser-important diagnosis, but that’s not how it should be understood. The symptoms, pain, fatigue, joint instability, and all the associated difficulties, can be just as significant in HSD as in hEDS. The difference lies in the diagnostic criteria being met, not in how much the condition affects someone’s life. People with HSD deserve the same access to appropriate support and management as those with a formal EDS diagnosis.

HSD is categorised into subtypes based on the type and extent of hypermobility ^[22]:

– Generalised HSD (G-HSD), generalised joint hypermobility with musculoskeletal symptoms

– Peripheral HSD (P-HSD), hypermobility confined to the hands and feet, with associated symptoms

– Localised HSD (L-HSD), hypermobility in a single joint or region, with symptoms

– Historical HSD (H-HSD), historical evidence of hypermobility (score on the five-part questionnaire) without current measurable hypermobility, but with symptoms

One important practical point, and this one has numbers behind it. Among 97 people followed prospectively through coordinated physical therapy, hEDS and HSD had similar severity overall, 54 per cent reported improvement at around 20 months, and there was no outcome difference between the two groups ^[23]. Swedish registry data covering 406 EDS and HSD cases found no significant difference in one year improvement compared with other chronic pain conditions, on quality of life, mental health or fatigue ^[24]. In one clinic cohort, symptom frequency and severity were largely indistinguishable between hEDS and HSD apart from some autonomic features ^[25].

So the rehabilitation and physical approaches that work for one tend to work for the other. You don’t need to chase an hEDS diagnosis if you’ve been given an HSD diagnosis and you’re receiving appropriate support. The label matters for some things (specialist referrals, research eligibility, insurance in some countries) but shouldn’t define the treatment approach. You can read more about how hypermobility affects sleep quality and rib subluxation, both of which are just as relevant whether you have hEDS or HSD.

How to Actually Get Diagnosed: A Practical Guide

Knowing the criteria is one thing, navigating the healthcare system to get a diagnosis is another. Here’s what the process typically looks like, and how to make it as efficient as possible.

Start with your GP

Your first port of call should be your GP (general practitioner). The goal of this appointment is to get a referral to a rheumatologist, clinical geneticist, or ideally a connective tissue disorder specialist. Before your appointment:

– Write a clear symptom history, including when symptoms started, what joints are affected, any dislocations or subluxations, skin symptoms, and any family history of similar issues.

– Bring a printed copy of the 2017 diagnostic criteria. The Ehlers Danlos Society provides a downloadable hEDS diagnostic checklist that you can fill in and take with you ^[26].

– If you’re concerned about a rarer type, particularly vascular EDS given the seriousness of the condition, say so explicitly and explain why (family history, specific symptoms).

What happens at the specialist appointment

For hEDS specifically: Diagnosis is made clinically. The specialist will examine your joints using the Beighton Score and other clinical tests, review your history against the three criteria outlined above, and rule out alternative diagnoses. There’s no genetic test to order. The Ehlers Danlos Society’s diagnostic guidance is the reference point your clinician should be using.

For all other types: Genetic testing is the definitive route to confirmation. Depending on the suspected type, this might involve targeted testing for specific genes (for example, COL3A1 if vEDS is suspected) or a broader connective tissue gene panel. A clinical geneticist is well-placed to guide this process.

If you don’t get anywhere initially: Delays are long, and they are measured rather than anecdotal. The numbers are in the section on timelines below ^[33][35]. If you’re not getting traction, it’s entirely reasonable to ask for a second opinion, seek a referral to a dedicated connective tissue disorders clinic, or ask to be referred to a specialist who has experience with EDS. The Ehlers Danlos Society maintains resources to help people find knowledgeable clinicians.

It’s also worth knowing that even if you don’t quite meet the criteria for hEDS, an HSD diagnosis is legitimate and should still open doors to appropriate physiotherapy, pain management referrals, and other support. Don’t let the pursuit of a specific label delay you getting practical help.

If you think hypermobility might be behind other symptoms you’ve been struggling to explain, understanding what else can look like hypermobility is a useful starting point before your appointment. And if you’re at a stage in life where pregnancy is on your radar, it’s worth reading about how hypermobility and EDS interact with pregnancy sooner rather than later.

The Beighton Score: What It Is and What It Isn’t

The Beighton Score is one of the most commonly used tools in the assessment of joint hypermobility, and it comes up repeatedly in any EDS diagnostic process. It’s worth understanding exactly what it is, and what it isn’t.

What it measures: The Beighton Score is a standardised way of assessing generalised joint hypermobility. It involves five manoeuvres scored across nine points, each scored 0 or 1, for a maximum of 9 ^[1].

It is worth knowing where it came from. Beighton, Solomon and Soskolne published it in 1973 as an epidemiological measure of articular mobility in a large African population survey, looking at how joint mobility varied with age, sex and somatotype and how it related to non-specific musculoskeletal complaints ^[27]. It was not built as a diagnostic test for hEDS. It has ended up doing that job because it is the best clinical tool available, which is not the same thing as being a good one ^[29].

The five manoeuvres (scoring up to 9 points):

– Passive dorsiflexion of the little finger beyond 90 degrees, 1 point per side (2 points total)

– Passive apposition of the thumb to the forearm, 1 point per side (2 points total)

– Hyperextension of the elbow beyond 10 degrees, 1 point per side (2 points total)

– Hyperextension of the knee beyond 10 degrees, 1 point per side (2 points total)

– Forward flexion of the trunk with knees straight, palms flat on the floor, 1 point (1 point total)

A higher score indicates more generalised joint laxity. The thresholds relevant to hEDS are 6 out of 9 for pre-pubertal children and adolescents, 5 out of 9 for pubertal men and women up to 50, and 4 out of 9 over 50 ^[1]. In children, the paediatric literature argues the adult cut-offs overcall hypermobility, and pooled data from 37 articles covering 28,868 children put 6 or more out of 9 at 6 per cent of boys and 13 per cent of girls, with 7 or more suggested as the better line in some girls ^[32].

On reliability it does well, and on validity less so. Pooled across 24 studies and 1,333 people, inter-rater and intra-rater agreement came out substantial to excellent ^[28]. Weighed against the alternatives it is still the best clinical option for classifying generalised joint hypermobility, with evidence for its validity that is limited to conflicting, and it is meant to be supplemented with historical information rather than used alone ^[29].

What the Beighton Score isn’t: It’s not a diagnostic test for EDS on its own. A high Beighton Score tells you that joints are hypermobile. It doesn’t tell you why, and it doesn’t confirm an EDS diagnosis by itself. Similarly, a lower Beighton Score doesn’t rule out EDS. Scores fall with age, which was in the original description ^[27]. Across 1,000 people aged 3 to 101, scores varied with age, sex and ethnicity, and a single universal cut-off of 4 or more performed poorly right across the lifespan ^[30]. False negatives in adults with confirmed connective tissue disorders are documented ^[31]. This is why the 2017 criteria allow for some flexibility, and why the five-part questionnaire about historical hypermobility can contribute to meeting Criterion 1 even when current scores are lower.

It is also worth noting that the Beighton Score is weighted towards the upper limb and leaves a lot of joints out ^[31]. It does not assess the shoulders, the hips or the spine. In a global survey of 3,906 people, the joints most often affected in hEDS included the shoulders and the hips, and the score touches neither ^[33]. It’s a starting point for assessment, not a comprehensive picture of someone’s joint laxity. Some people with significant spinal or shoulder hypermobility will score relatively low on the Beighton, which is another reason why an informed clinical assessment matters so much more than a number. If you’re curious about what hypermobility can look like in practice, including in people who don’t think of themselves as flexible, it’s worth reading about how hypermobility doesn’t always mean what people think it means.

People ask about taping. In people with hEDS and shoulder pain randomly assigned to one technique or the other, two kinesiology taping techniques produced short-term improvement in active external and internal rotation range, no significant improvement in active joint repositioning, and no effect on shoulder flexion ^[34]. That is a small short-term range of motion effect. It is not evidence that tape does anything for instability or proprioception.

A Note on Diagnosis Timelines

If there’s one thing we want to leave you with, it’s this: getting a diagnosis for EDS, particularly hEDS, often takes time. The delay is measured, and it is longer than several years. Among 505 people with clinically confirmed hEDS, the average was 10.39 years to diagnosis and 10.45 alternative diagnoses along the way ^[35]. Across 3,906 people surveyed globally, the mean delay was 22.1 years for hEDS and 17.5 years for HSD ^[33]. A German sample came out at a mean of 22.0 years, and 23.0 years for hEDS and HSD specifically ^[36]. All three are self-reported, which is worth holding in mind, and all three point the same way. Many people spend those years being told their symptoms are anxiety, deconditioned muscles, growing pains, or “just how you are.” None of that is your fault, and none of it means your experience isn’t real.

The 2017 classification gave us a much clearer framework than we’ve ever had before, but it takes time for that framework to filter through to every GP surgery, every A&E department, every physiotherapy clinic. Awareness is improving, but we’re not there yet.

Pursuing a diagnosis is worth it, not because a label fixes anything on its own, but because the right diagnosis opens doors. It can lead to appropriate referrals, it can help you understand what’s happening in your body, it can help those around you understand it too, and it can give you a framework for making informed decisions about your health. You deserve that framework. Keep going.

The Fibro Guy

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References

[1] Malfait, F., Francomano, C., Byers, P., Belmont, J., Berglund, B., Black, J. et al. (2017) ‘The 2017 international classification of the Ehlers–Danlos syndromes’, American Journal of Medical Genetics Part C: Seminars in Medical Genetics. https://doi.org/10.1002/ajmg.c.31552

[2] Ritelli, M., Chiarelli, N., Cinquina, V., Vezzoli, M., Venturini, M. and Colombi, M. (2023) ‘Looking back and beyond the 2017 diagnostic criteria for hypermobile Ehlers‐Danlos syndrome: A retrospective cross‐sectional study from an Italian reference center’, American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.63426

[3] Motlak, M., Lee, E., Guilarte, G., Surapaneni, A., Dreikorn, E., Massart, M. et al. (2026) ‘The hypermobility crisis: A review and call to action’, Developmental Dynamics. https://doi.org/10.1002/dvdy.70169

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