EDS is a group of genetic connective tissue disorders. It can sometimes be relevant where there is an allegation of non-accidental injury accompanied by a family history of symptoms suggestive of a connective tissue disorder.
It is well established that EDS can make a child more susceptible to bruising. Individuals with EDS can display skin hyper-elasticity, joint hypermobility and fragile skin that breaks or bruises easily. EDS is caused by a defect in the structure, production, or processing of collagen in connective tissues.
Collagen is present throughout our bodies and so where EDS is diagnosed, it will generally affect all aspects of the body. It could therefore also contribute to injuries such as subconjunctival haemorrhaging. The ability of EDS to contribute to retinal and subdural haemorrhaging is medically a bit more controversial but there are several reported cases in which the court has accepted that this kind of disorder has played a role, even the milder form (type III).
There is a very small amount of research suggesting that EDS can affect bone mineralisation (and therefore may make someone more likely to sustain a fracture). This is very controversial and at the moment there is not enough research to fully support this. However, EDS can overlap with conditions such as osteogenesis imperfecta which is well known to cause a predisposition to fracture. Sometimes a genetic panel test is needed to see what genetic mutations a child has.
EDS can be inherited or it can occur by chance in someone without a family history. If a parent has EDS, there is a 50% chance that their child will have it.
It should be noted that EDS is not the only group of connective tissue and genetic disorders that may be relevant but a list of the different types of EDS along with symptoms is detailed below.
Types of EDS:
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Classical EDS (Type I and II) Not as common as Type III.
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Key signs: · Increased range of joint movement (double jointed) · Loose joints that are prone to dislocation/sprain/strain · Stretchy skin · Fragile skin – especially forehead, knees, shins and elbows · Smooth skin that bruises easily · Wounds that are slow to heal and leave scars (mostly found on knees, elbows, forehead, and chin) · Hernias and organ prolapse |
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Hypermobility EDS (Type III) The most common and least severe of the types. Diagnosis of this type is made on a person’s medical history and a physical examination as there is no genetic test for EDS III. There are several reported cases on EDS III and summaries of them can be found on the Case History page |
Key signs: · Increased range of joint movement · Loose joints and common dislocations (i.e. shoulder and knee) · Joint pain (can be chronic pain) and joints that click · Extreme fatigue · Skin that bruises easily · Digestive problems i.e. heartburn and constipation/IBS · Dizziness and increased heart rate after standing up · Problems with internal organs i.e. organ prolapse · Problems with bladder control |
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Vascular EDS (Type IV) Often considered the most serious. It affects the blood vessels and internal organs and can cause them to rupture and bleed |
Key signs: · Skin that bruises easily · Thin skin with visible small blood vessels (particularly upper chest and legs) · Fragile blood vessels resulting in internal bleeding · Risk of organ problems i.e. bowel tear, womb tear in late pregnancy and partial collapse of the lung · Hypermobile fingers and toes · Premature ageing of the skin · Unusual facial features i.e. thin nose and lips, large eyes and small earlobes · Varicose veins and wounds that don’t heal quickly |
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Kyphoscoliotic EDS (Type VI) A very rare type. This type can be diagnosed through a urine test. |
Key signs: · Curvature of the spine (scoliosis) which gets worse in teenage years · Increased range of joint movement · Unstable joints that are prone to dislocation · Hypotonia – weak muscle tone at birth and delayed gross motor development · Fragile eyes · Soft, stretchy skin that bruises easily and scars |
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Arthrochalasia Type (Type VIIB) A skin biopsy can diagnose this type of EDS. |
Key signs: · Congenital hip dislocation · Joint hypermobility · Skin elasticity and prone to bruising · Fragile tissues and scarring · Muscle hypotonia |
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Dermatosparaxis Type (Type VIIC) The number of patients reported with this type of EDS is very small. A skin biopsy can diagnose this type of EDS. |
Key signs: · Severe skin fragility and substantial bruising · Skin texture is soft and doughy and sagging and folding |
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Tenascin-X Deficient Type |
Key signs: · Joint hypermobility · Hyper-elastic skin and fragile tissue |
You can learn more about EDS through EDS UK https://www.ehlers-danlos.org/