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Ehlers-Danlos Syndromes: a guide

Child removal iStock 000007583512XSmall 146x219 Ehlers-Danlos Syndromes are often raised as a possibility in cases of alleged inflicted injury. Mark Cooper provides a guide for family lawyers on these conditions.

Ehlers-Danlos Syndromes (“EDS”) is a group of conditions we often hear about in cases involving inflicted injuries to children such as the recent decision in Re D (A Child) [2017] EWHC 3075 (Fam). EDS is the collective term given to a series of rare genetic conditions that can affect connective tissue in tendons, ligaments, bones, blood vessels, skin and internal organs.

There are thirteen types of EDS, including:

(a) Hypermobile EDS (or “hEDS”) is the most common, with symptoms including joint hypermobility, joints that dislocate easily, joint pain, clicking joints, extreme tiredness, easy bruising, digestive problems, dizziness and bladder problems;

(b) Classical EDS (or “cEDS”), with symptoms including joint hypermobility, joints that dislocate easily, stretchy skin, fragile skin (especially over the forehead, knees, shins and elbows), smooth velvety skin that bruises easily, slow-healing wounds that leave wide scars, hernias and organ prolapse;

(c) Vascular EDS (or “vEDS”), with symptoms including skin that bruises very easily, thin skin with visible small blood vessels, fragile blood vessels (with risk of internal bleeding), a risk of organ problems, such as the bowel tearing, the womb tearing (in late pregnancy) and partial collapse of the lung, hypermobile fingers and toes, unusual facial features, varicose veins and delayed wound healing; and

(d) Kyphoscoliotic EDS (or “kEDS”), which is very rare, with symptoms including curvature of the spine, joint hypermobility, joints that dislocate easily, hypotonia (weak muscle tone), fragile eyes, soft, velvety skin that is stretchy, bruises easily and scars.

As you can see, the different types of EDS share many of the same symptoms. Faults in particular genes causes the body’s connective tissue to weaken, hence the different types of the condition. Sometimes these genes are inherited from a parent (or both parents) and sometimes the faulty genes can occur in the afflicted person for the first time without a family history of the condition. Some people with EDS have very mild symptoms and it may even go undiagnosed. However, it can also be life-threatening in rare and severe cases.

There are two main ways that EDS is inherited:

(a) autosomal dominant inheritance (in the case of hEDS, cEDS and vEDS), whereby the faulty gene is passed on by one parent and there is a 50% chance of the child developing the syndrome; and

(b) autosomal recessive inheritance (in the case of kEDS), whereby the child inherits the faulty gene from both parents and has a 25% chance of developing the condition.

The genetic basis for hEDS remains unknown and its diagnosis is based largely on physical criteria and consideration of a detailed family history. Molecular testing can be undertaken in respect of cEDS, vEDS and kEDS, but it can take several months.

EDS is often raised in cases where a child is alleged to have suffered an inflicted injury. However, it is not the case that EDS testing will be undertaken as a matter of course. The well-known test for expert evidence is that it must be ‘necessary’ in order to resolve the proceedings justly. For example, in a case where the parents accept the medical evidence that the injury is inflicted but the perpetrator cannot be identified, the Court is highly unlikely to entertain the idea of EDS testing.

In cases where there is a known family history of EDS or where EDS is heavily suspected by the treating clinicians, the Court is far more likely to order expert evidence. In those circumstances, a consultant geneticist would be the appropriate expert to instruct, such as Dr Arnand Saggar.

In the absence of such a family history or a clinical request, there would need to be some other reason capable or satisfying the ‘necessary’ test. Of course, each case is fact specific, but an example would be a case where significant doubt had been cast over the likelihood of the injury being an inflicted injury and there was no other explanation. In those circumstances, it is helpful to know that Professor Ann Dalton of the Sheffield Diagnostic Genetics Service can be instructed to undertake a barrage of various genetic tests.

It is not uncommon for the Court to find itself in a position of having to wait for EDS testing to be completed, which has already been commissioned (such as by the hospital or the police). In those circumstances, it can be argued that any factual determination of the injuries within the care proceedings should await the outcome of this testing and it may be a legitimate reason to extend the 26-week timetable for the proceedings.

You can find out more about EDS by visiting the Ehlers-Danlos Support UK website at www.ehlers-danlos.org.

Mark Cooper is a barrister at St Ives Chambers. He can be contacted on 0121 236 0863 or This email address is being protected from spambots. You need JavaScript enabled to view it..

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