Ehlers Danlos Syndrome is a group of hereditary connective tissue disorders. There are a total of thirteen different types of Ehlers Danlos Syndrome. Each one has its own set of symptoms and varying criteria which medical professionals will use for diagnosis. Many of the symptoms will present themselves in multiple types of EDS. Joint hypermobility and skin hyperextensibility are examples of symptoms which are often found in more than one of the thirteen types.
To be diagnosed, the criteria is quite strict and can involve multiple tests and / or assessments. These tests / assessments will be looking at different aspects of the condition to get a complete picture and overall result. Hypermobility EDS (hEDS) is diagnosed through assessment only, there are no tests that can prove you have this condition. However, for all other types, a genetic test can be carried out to confirm diagnosis.
How rare is Ehlers Danlos Syndrome?
Ehlers Danlos Syndrome is classified as a rare disease according to The Ehlers Danlos Society. This is because EDS is currently (2024) diagnosed in less than 1 in 2,000 people. Although numbers are still low, the condition is becoming more recognised as time goes on. Back in the year 2000, the number of people who were diagnosed with EDS was only around 1 in 5,000 according to a publication by Pyeritz. This number was also supported by other studies which took place across the world.
The Ehlers Danlos Society describes EDS as one of the most misunderstood conditions of our time. Many expert clinicians believe that the hypermobile EDS type specifically is still underdiagnosed and that true numbers could be much higher.
It is also important to mention that the hypermobile Ehlers Danlos Syndrome type makes up 80%-90% of total people with EDS. Making the other twelve types of EDS types extremely rare.
Types of EDS and their main symptoms
Ehlers Danlos Syndrome is sub-divided into thirteen different types. Please be advised that the below is a brief understanding of each type and their symptoms.
Arthrochalasia EDS (aEDS)
Arthochalasia Ehlers Danlos Syndrome is an incredibly rare type of EDS which is caused by a variation in a person’s genes. Its symptoms include severe joint hypermobility, mild dysmorphic features and bilateral congenital hip dislocation. If a person appears to meet the criteria, a genetic test can be done to confirm diagnosis.
Brittle Cornea EDS (BCS)
Brittle Cornea Ehlers Danlos Syndrome is another very rare type of EDS which is caused by a gene variation. It causes a person’s corneas to be thin and fragile. A genetic test can be done to confirm diagnosis, however there is a criteria to be met first before the genetic test will be completed. An example of some of the Major symptoms include a Blue sclerae and a thin cornea (with or without rupture).
Cardiac Valvular EDS (cvEDS)
Cardiac Valvular Ehlers Danlos Syndrome is a rare type of EDS which causes severe heart valve problems, atrophic scarring, joint hypermobility and skin hyperextensibility. This condition is caused by variations in a person’s genes. To meet the criteria for diagnosis, a person must inherit the condition from their parents. However, as it can be passed down in an autosomal recessive way, the parents may each only have a recessive gene variation and not display symptoms themselves. A genetic test can be carried out to confirm diagnosis.
Classical EDS (cEDS)
Classical Ehlers Danlos Syndrome is one of the more common types of EDS. However, there are still only 1 in 20,000-40,000 people diagnosed. cEDS occurs when there are variants in a person’s genes. This means a genetic test is available to diagnose the condition if the criteria has been met. Classical Ehlers Danlos Syndrome causes severe skin hyperextensibility, skin fragility and atrophic scarring. cEDS also causes joint hypermobility and instability. This type may be inherited directly from a parent or due to random mutation.
Classical-like EDS (clEDS)
Classical-like Ehlers Danlos Syndrome is very similar to Classical EDS, with the exception of the atrophic scarring. Somone who has been diagnosed with clEDS will not experience atrophic scarring. However, they can still experience skin hyperextensibility, skin fragility and joint hypermobility & instability. The gene variation in clEDS is different to that of cEDS. This is another condition which requires a family history for diagnosis and can passed down in an autosomal recessive way.
Dermatosparaxis (dEDS)
Dermatosparaxis Ehlers Danlos Syndrome is an incredibly rare condition, affecting less than 1 in 1 million people. Its main symptoms are craniofacial abnormalities, loose and fragile skin and being prone to severe bruising. DEDS is caused by a variation in the ADAMTS2 gene. This means that, if the criteria has been met, a genetic test can be done to confirm diagnosis.
Hypermobile EDS (hEDS)
Hypermobile Ehlers Danlos Syndrome is the most common type of EDS, yet still rare. It tends to affect 1 in 3,000 – 5,000 people. The true prevalence is believed to be underestimated. This type of EDS was known as ‘type 3’ however, it has recently been reclassified as hEDS. Although not proven, it is believed to be an inherited condition. Dislocations, subluxations and faulty connective tissues are some of symptoms of hEDS. This type is diagnosed through assessment rather than genetic testing which could lead to more frequent misdiagnosis.
Kyphoscoliotic EDS (kEDS)
Affecting 1 in 100,000 births, the Kyphoscoliotic Ehlers Danlos Syndrome type is likely to present symptoms at birth and throughout a child’s development. These may include severe hypotonia at birth, delayed motor development, progressive scoliosis (which is present from birth), vascular fragility and aortic root enlargement. Diagnosis of kEDS tends to be through criteria and genetic testing similar to most other EDS types.
Musculocontractural EDS (mcEDS)
Musculocontractural Ehlers Danlos Syndrome is a form of EDS which is caused by a variation in a person’s genes. To confirm diagnosis, and as long as the criteria has been met, a genetic test can take place. McEDS is rare and can cause congenital multiple contractures and abnormalities in cranial and skin features.
Myopathic EDS (mEDS)
Myopathic Ehlers Danlos Syndrome affects the muscles, causing muscle atrophy and congenital muscle hypotonia. Hand hypermobility and joint contractures are also symptoms of mEDS. With mEDS being caused by a variation in a person’s genes, this type can also be confirmed with a genetic test, so long as the criteria has been met. The criteria for this rare condition is split into major and minor symptoms.
Periodontal EDS (pEDS)
Less than 1 in 1 million are diagnosed with Periodontal Ehlers Danlos Syndrome, the rarest type of EDS. This condition affects a person’s gums causing periodontitis which can be severe and can start early. Other symptoms of pEDS are easy bruising, joint hypermobility and lack of attached gingiva.
Spondylodysplastic EDS (spEDS)
Spondylodysplastic Ehlers Danlos Syndrome is one of the rarer types of EDS. Also affecting less than 1 in 1 million people. This type of EDS causes muscle hyponia, short stature and limbs which are bowed. There are many other symptoms that can come with spEDS, however, like every other type of EDS not all of them are present in each person diagnosed. Some of these additional symptoms are delayed cognitive development, clouded cornea, thin and translucent skin and delayed motor development. After meeting the criteria for spEDS, a genetic test can be carried out to confirm the diagnosis.
Vascular EDS (vEDS)
Vascular Ehlers Danlos Syndrome is thought to be the most life threatening type. This condition is caused by faulty type III collagen. It is a genetic connective tissue disorder that causes the blood vessels and organs to be fragile and prone to tearing. Many people live their lives without knowing they even has this condition and it isn’t until a medical emergency occurs that it becomes apparent. A genetic test is extremely important to determine if a person has vEDS. Over 99% of people who are diagnosed with this condition show an alteration in the gene COL3A1. In some rare cases, where genetic testing does not confirm the diagnosis, a skin biopsy can be taken to test the collagen fibres.
You should seek guidance from a medical professional if you believe you have symptoms that should be addressed.
EDS support
There are a few places you can go to get support for EDS, regardless of what type you have. From social media groups, to helplines. This is not a condition you must live with alone. Have a look here. at the Ehlers Danlos Society support page. They have numerous options for you to get the support you need.
Seraphina is a qualified Personal Trainer who specialises is coaching people with EDS / HSD. She is certified in the Integral Movement method and listed on the Ehlers Danlos Society directory of professionals. A long-term hEDS sufferer herself, she is devoted to helping others improve their strength and mobility.
