How do I know if my child has Ehlers-Danlos?

Very loose small joints (fingers), but most often not the large joints (knees, elbows, hips, shoulders) Distinct facial look with a thin nose, thin lips and hollow-looking cheeks. Thin “see-through” skin where blood vessels are seen just under the skin in areas that are not typical. Normal scar formation.
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How do I know if my child has Ehlers-Danlos syndrome?

Hypermobile EDS: Typical symptoms include joint hypermobility; soft, velvety skin that bruises easily; and chronic bone or muscle pain. Classical EDS: Symptoms may include elastic, stretchy skin that bruises easily, hypermobile joints, muscle weakness, and delayed development.
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At what age is Ehlers-Danlos syndrome diagnosed?

It is usually diagnosed before the age of 2 years. Fragility, bruising and sagging of the skin are severe but, surprisingly, the skin heals well. Like the other rare types, in order to inherit it you need to inherit one faulty gene from EACH of your parents.
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How do you test for Ehlers-Danlos syndrome?

How do doctors diagnose Ehlers-Danlos syndrome?
  1. Genetic testing: The most common way to identify the condition is to look for a faulty gene.
  2. Biopsy: In some cases, a doctor will use a test called a biopsy. ...
  3. Physical exam: During a physical exam, doctors can see how much the skin stretches and how far the joints can move.
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Can Ehlers-Danlos syndrome go undiagnosed?

For many people with Ehlers-Danlos syndrome the journey to diagnosis will have been a long and convoluted one. Poor awareness of the condition amongst medical professionals means that it can go undiagnosed. It is common to be wrongly diagnosed with another condition first in an effort to find answers.
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Ehlers-Danlos Syndrome- causes, symptoms, diagnosis, treatment, pathology



What mimics Ehlers-Danlos syndrome?

Tnxb-/- mice showed progressive skin hyperextensibility, similar to individuals with Ehlers-Danlos syndrome. Biomechanical testing confirmed increased deformability and reduced tensile strength of their skin.
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What doctor can diagnose Ehlers-Danlos?

Most medical doctors should be able to diagnose EDS and HSD. However, because the Ehlers-Danlos syndromes are genetic disorders, primary care physicians often provide their patients with referrals to a geneticist.
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Does Ehlers-Danlos show up in blood work?

Extremely loose joints, fragile or stretchy skin, and a family history of Ehlers-Danlos syndrome are often enough to make a diagnosis. Genetic tests on a sample of your blood can confirm the diagnosis in rarer forms of Ehlers-Danlos syndrome and help rule out other problems.
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What is the life expectancy of someone with EDS?

It is often associated with a shortened lifespan. Among affected people diagnosed as the result of a complication, 25% have experienced a significant medical complication by age 20 and more than 80% by age 40. The median life expectancy for people affected by vascular EDS is 48 years.”
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Does Ehlers-Danlos get worse with age?

Many of the problems associated with EDS are progressive, meaning that they get worse over time. Kyphoscoliosis EDS (kyphosis and scoliosis) is a form of Ehlers-Danlos Syndrome that is noted for severe, progressive curvature of the spine.
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Are you born with EDS?

EDS is something you are born with but symptoms may not manifest themselves until later in life. It is not uncommon for a genetic condition to first become apparent during puberty, alternatively symptoms can be triggered by a trauma, such as a virus, many years down the line.
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What does an EDS flare up feel like?

Day 4 of the Photo-A-Day Challenge - What does a flare up (of symptoms) look like for you? "A "flare up" with EDS for me is extreme pain with my joints, a low grade fever, and subluxations of my fingers and other joints. "Today you are actually witnessing one of the longest flares I've had since being diagnosed.
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How do you test for EDS hypermobility?

There is no test for hEDS, so diagnosis involves looking for joint hypermobility, signs of faulty connective tissue throughout the body (e.g. skin features, hernias, prolapses), a family history of the condition, and musculoskeletal problems (e.g. long-term pain, dislocations).
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Is EDS linked to autism?

Recent research suggests that EDS may share strong links with autism. Case studies have previously been published identifying individuals who are both on the autism spectrum and have a diagnosis of EDS.
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What can trigger EDS?

The different types of EDS are caused by faults in certain genes that make connective tissue weaker. Depending on the type of EDS, the faulty gene may have been inherited from 1 parent or both parents. Sometimes the faulty gene is not inherited, but occurs in the person for the first time.
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Is EDS considered a disability?

Applying for Social Security Disability with Ehlers-Danlos Syndrome. Like many rare genetic conditions, there is no Blue Book listing for Ehlers-Danlos. However, you may still qualify for benefits if you can match a listing associated with your particular symptoms or impairments.
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Can you live a normal life with Ehlers-Danlos?

General: EDS affected persons can live like normal people; however, they may feel some constraints in their mobility. A person affected with vascular EDS is prone to serious fatal complications like tearing open of a main blood vessel or organ.
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Is EDS an autoimmune disorder?

A much rarer group of connective tissue disorders is called Ehlers-Danlos syndrome. Unlike the diseases noted above, Ehlers-Danlos syndrome is not an autoimmune condition, it's an inherited disorder.
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Can you see EDS on xray?

Apart from a physical examination, skin biopsies, and genetic testing, imaging tests such as X-rays, computerized tomography (CT), and magnetic resonance imaging (MRI) can also help to confirm a diagnosis of EDS.
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Can you see Ehlers-Danlos on MRI?

Medserena MRI scans and Ehlers-Danlos Syndrome

Upright MRI scans of the cervical spine can be particularly useful for helping to diagnose and investigate symptoms in Ehlers-Danlos Syndrome.
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Does EDS affect the eyes?

Ehlers Danlos Syndrome patients are prone to myopia and elongated eyes due to the stretching of the collagenous sclera.
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Can you have EDS and not be flexible?

Indeed, each type of Ehlers-Danlos is a distinct disorder with its own unique symptoms and challenges—and many do not present with joint hypermobility as a defining symptom.
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Does 23 and ME test for EDS?

This article will discuss some conditions that are not included in 23andMe reports. If you are interested in learning about which conditions are included in the 23andMe Health + Ancestry Service, you can view a full list here. 23andMe does not offer diagnostic testing.
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What is the difference between EDS and hypermobility?

While hypermobile EDS (hEDS) remains the only EDS without a confirmed cause, the criteria for hEDS diagnosis have been tightened compared to the 1997 Villefranche nosology as determined by international consensus. The essential difference between HSD and hEDS lies in the stricter criteria for hEDS compared to the HSD.
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