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What are the red flags for Ehlers-Danlos syndrome?

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The red flags for Ehlers-Danlos syndrome are easy bruising, abnormal scarring, stretchy hyperextensible skin and severe joint hypermobility.

The joint and muscle red flags of Ehlers-Danlos syndrome include.

Chronic fatigue and pain, like unexplained, widespread joint pain and muscle pain, that is often diagnosed as growing pains in childhood and are often accompanied by severe, lingering exhaustion.

Frequent dislocations and subluxations, where joints pop out of place easily or frequently.

And extreme joint hypermobility, where joints easily bend far past the normal range of motion.

The wound and skin red flags for Ehlers-Danlos syndrome include.

Easy and unexplained bruising like heavy bruising with little or no impact.

Abnormal scarring, where you have scars that are wide, thin and crinkly and often are described as having a pizza dough texture or cigarette paper texture to them.

Poor wound healing, where cuts and scrapes take an unusually long time to heal or wounds which tear back open after they are stitched closed.

And stretchy and velvety skin, where you have skin that can be pulled abnormally far away from the body but snaps back when it's released.

The critical and vascular red flags for Ehlers-Danlos syndrome include.

Unexplained aneurysms or artery dissections.

Spontaneous organ rupture or bowel perforation.

A family history of sudden death or vascular complications and distinct facial features like having a thin nose, thin upper lip, prominent eyes that are combined with very thin, translucent skin where your veins are easily visible.

And other systemic red flags for Ehlers-Danlos syndrome are frequent hernias, due to weakened connective tissues, severe digestive or bladder issues, like unexplained IBS or irritable bowel syndrome, recurring acid reflux or pelvic organ prolapse at a young age and vision abnormalities, like severe myopia (nearsightedness), retinal detachment or extremely thin cornea..

The age that Ehlers-Danlos syndrome is usually diagnosed is by age 20s to 40s, although some cases of Ehlers-Danlos syndrome are diagnosed by around 12 years old.

Although most people wait until their 20s to 40s to get an official diagnosis of Ehlers-Danlos syndrome.

For hypermobile Ehlers-Danlos syndrome, the symptoms often show up in childhood, although diagnosis is commonly delayed into adulthood, but is partly a result of the subtlety of the signs and because adult diagnostic tools also require meeting specific hypermobility thresholds.

Classical Ehlers-Danlos Syndrome, the symptoms often start in childhood or adolescence with highly elastic skin and joint issues, although the diagnosis often gets delayed due to milder presentations.

And vascular Ehlers-Danlos syndrome is a more severe type of Ehlers-Danlos syndrome and is often diagnosed in adulthood after severe, acute complications, but it can also be diagnosed earlier if vascular fragility is suspected.

The age that EDS or Ehlers-Danlos syndrome usually starts is from birth, but the symptom onset of EDS or Ehlers-Danlos syndrome is often in childhood or adolescence ages.

EDS or Ehlers-Danlos syndrome often also emerges during puberty.

The actual age of onset of EDS or Ehlers-Danlos syndrome varies.

EDS or Ehlers-Danlos syndrome is a genetic condition that is actually present from birth.

And for some subtypes of Ehlers-Danlos syndrome, the signs may be noticeable as early as infancy, or remain mild enough that the symptoms or signs of Ehlers-Danlos syndrome are not noticed until adulthood.

For Vascular EDS or (vEDS), it's a rarer and more severe subtype of Ehlers-Danlos syndrome and initial symptoms of Ehlers-Danlos syndrome or vascular Ehlers-Danlos syndrome like severe, unexplained bruising might appear in childhood or even adolescence.

Although the most severe signs of vascular EDS or vascular Ehlers-Danlos syndrome, like arterial or organ ruptures are usually the first major indicators and are frequently present in adulthood.

For hypermobile EDS or hEDS and Classical EDS, the signs like hypermobility or double jointedness, frequent joint dislocations and easily bruised, soft or stretchy skin will often appear in early childhood or puberty.

Although, these are also frequently dismissed as being growing pains or clumsiness, which is also why the diagnosis is often delayed until the person is in their 20s, 30s, or even their 40s.

Ehlers-Danlos Syndrome (EDS) is not a type of autism. EDS is a group of genetic connective tissue disorders that affect the skin, joints, and blood vessels.

In contrast, autism (ASD) is a neurodevelopmental condition that affects how a person communicates, interacts, and perceives the world.

While they are entirely distinct conditions, clinical research shows a strong overlap and co-occurrence between EDS (particularly the hypermobile type, hEDS) and autism.

Ehlers-Danlos Syndrome (EDS) can be passed down by either parent.

Because Ehlers-Danlos Syndrome (EDS) is an autosomal condition, the gene is not tied to a specific sex chromosome, meaning both mothers and fathers can carry and transmit it equally.

Autosomal Dominant Inheritance: The faulty gene only needs to be inherited from one parent to cause the condition.

If one parent has this type, each child has a 50% chance of developing EDS.

This applies to the most common type, Hypermobile EDS (hEDS), as well as Classical and Vascular EDS.

Autosomal Recessive Inheritance: The faulty gene must be inherited from both parents for the child to develop the condition (e.g., Kyphoscoliotic EDS).

If both parents are carriers, there is a 25% chance of the child having EDS in each pregnancy.

Spontaneous (De Novo) Mutations: It is also possible to be the first person in your family to have EDS due to a spontaneous gene change that was not inherited from either parent.

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