Waardenburg syndrome Affects One In 40,000 People, And It Gives People Different Colored Eyes

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The symptoms of many illnesses are often easy to recognize: fever, nausea, coughing and aches are all clear suggestions that there’s something wrong with your body, after all. There are some conditions, however, that are tougher to diagnose – not least because the warning signs appear to be completely benign.

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In fact, something as desirable as beautiful blue eyes can be an indicator of a particular genetic mutation. But while that may sound fine by itself, the implications of living with this particular syndrome can actually be very serious indeed. That’s because its symptoms extend beyond just having ocean-colored eyes.

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The condition in question, meanwhile, was initially discovered by Petrus Johannes Waardenburg, an ophthalmologist from the Netherlands, in 1947. And to find it, he pinpointed genes that could cause anything from hearing loss to changes in a person’s pigmentation. The Dutch man’s medical breakthrough was subsequently termed Waardenburg syndrome (WS).

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In many cases, WS is caused when the genes are passed to a child; indeed, there’s an even chance that WS will travel from an affected parent to their newborn son or daughter. It’s also been discovered, though, that the syndrome can be caused by a random mutation of someone’s genes.

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In particular, a change in at least six specific genes is required for WS to develop, according to the National Center for Advancing Translational Sciences. And with those mutations – whether random or inherited – there is a list of common symptoms through which doctors are able to diagnose WS.

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Furthermore, there are four different sub-types of WS, all of which may manifest themselves in different ways. Diagnosing WS, then, starts with doctors searching for the most common effects that it would have on a person. And, from there, they are then able to decipher the variant of the condition that an individual possesses.

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But, of course, not everyone with WS will have exactly the same set of symptoms. Perhaps fortunately for medical professionals, though, there’s a relatively clear way to reach a diagnosis: by examining the eyes of potential sufferers. That’s because WS may stunt the development of the eyes’ tissue fibers, and this in turn can create a tell-tale pigmentation.

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Indeed, in many cases, people with WS will actually have two differently colored eyes. Alternatively, they may possess similarly pigmented eyes that feature two hues within the iris. Plus, WS is commonly associated with extraordinarily bright blue eyes, too.

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The signature WS pigmentation doesn’t start and end with eyes, though. In addition, those with this particular genetic mutation often have tufts of white in their hairlines. This is a particularly strong indicator of WS in patients under 30, who likely wouldn’t have white hair otherwise.

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And there’s another physical sign of the condition that’s pigmentation-related: specifically, being born with white patches of skin. Facial features, especially a unibrow or wide nasal bridge, can show that a person has this genetic mutation as well.

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But not every sign of WS is a visible one. The condition often affects a person’s hearing, for example. And while aural impairment is most common in those with Type I WS, it is also present in those with Type II and Type III.

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Moreover, in some cases, hearing loss caused by WS is present at birth. In fact, the condition accounts for 1 to 3 percent of babies being born unable to hear. In this way, WS is one of the causes of congenital deafness.

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And taking in all of its iterations, WS occurs in approximately one in every 40,000 births. The condition doesn’t affect any one demographic more heavily than others, however, so there’s no single race or gender that’s more likely to be diagnosed with WS. And there are some well-known faces who may have the condition, too.

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It’s believed that Michael Jackson’s daughter Paris could have WS, for instance. And speculation on that front only increased after a 2017 interview with her make-up artist, Jo Baker, in Teen Vogue magazine. There, Baker called Jackson’s eyes “absolutely striking” and added that she loved using make-up to highlight them.

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And Baker also disclosed that Jackson’s incredibly blue eyes are out of the ordinary for one very specific reason: she has a rare condition. But while Baker didn’t provide the name of the syndrome that caused Jackson’s irises’ striking hue, some believe that it’s all down to WS.

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Unfortunately for the select few who have been diagnosed with WS, however, there is no cure for the genetic mutation. It’s worth noting, though, there are nonetheless solutions – both medical and cosmetic – to many of the issues caused by the condition.

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For those who experience hearing loss because of WS, for instance, medical and technological advances have meant that they may be able to regain their aural abilities. This may come in the form of a cochlear implant, which can be an especially important tool for children with deafness as it allows them to speak and learn at the same pace as their peers.

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There are also cosmetic solutions to some of the more conspicuous symptoms of WS. A simple hair-dyeing session can remove the signature white lock of hair that often comes with WS, for example. Make-up can also help camouflage patches of hypopigmentation of the skin, with the color evened out through the application of foundation and powder.

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For more extreme cases of hypopigmentation, though, there’s a permanent solution. This consists of depigmentation treatments, which bleach a person’s skin all over so that the tone is more uniform. A dermatologist can help a patient with WS to decide whether or not this is the best option.

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Most importantly, though, WS does not typically get in the way of a person’s ability to lead a normal existence, whether or not they try cosmetic and medical fixes. And, fortunately, WS rarely has an effect on life expectancy, meaning that those with the condition can fearlessly look toward the future with their rare, strikingly beautiful eyes.

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