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Waardenburg Syndrome

What is Waardenburg Syndrome?

Waardenburg Syndrome is a group of genetic conditions involving pigment and hearing loss.

 

 

Pigment anomelies for this condition include Vitiligo (patches of non-pigmented skin), and poliosis (white hair) - the most 'characteristic' of this condition being a white forelock. Heterochromia iridis - two differently-colored eyes, are the calling card of this condition.

 

 

Hearing loss for this condition usually ranges from moderate to profound.

 

Waardenburg Syndrome is a group of genetic conditions involving pigment and hearing loss.

 

 

Pigment anomelies for this condition include Vitiligo (patches of non-pigmented skin), and poliosis (white hair) - the most 'characteristic' of this condition being a white forelock. Heterochromia iridis - two differently-colored eyes, are the calling card of this condition.

 

 

Hearing loss for this condition usually ranges from moderate to profound.
Acknowledgement of Waardenburg Syndrome has not been added yet.
2.4http://www.orpha.net
Synonyms for Waardenburg Syndrome has not been added yet.
WS is an autosomal dominant trait, meaning it can be directly inherited from parent to child. There is a 50% chance of inheriting the disorder from an afflicted parent. Otherwise, this condition can be caused from spontaneous genetic mutation. The genes involved with this condition are MILF, SNA12, and TYR.
Pigmentation symptoms: - A tuft of white hair amid a person's normal hair color - white forelock. - White eyebrows, eyelashes, or body hair; or just parts of those areas will have some white hairs. - Hypo-pigmented spots or splotches on the skin, known as Vitiligo or Lekoderma. - Two different-colored irides, or irises with two colors in each. Or exceedingly bright blue eyes. *Note: not all people with this condition will have all pigmentation symptoms. Some hypopigmented hairs and skin will spontaneously repigment, but most are permanent. You do not need poliosis or Vitiligo to qualify for the condition, however you need to have some form of Heterochromia, or the blue eyes classic to this condition, for to meet criteria for the syndrome. Eye anomilies - reversed or large lid folds - dystopia of the inner canthi (inner corners of the eyes) - in some cases myopia - in some cases hyperteloism Facial anomilies - broad nasal root - in some, lightly bossed forehead - in some, receding lower jaw Anomilies of the bowel for Type IV Anomilies of the musculo-skeletal system for Type III
You must have two major characteristics, or one major and two minor characteristics, to meet criteria for the syndrome. The syndrome can be confirmed through genetic screening, with results showing mutation of the MILF, SNA12, and/or TYR genes.
Diagnostic tests of Waardenburg Syndrome has not been added yet
Treatments of Waardenburg Syndrome has not been added yet.
For those who are deaf, early identification and the use of cochlear implants or hearing aids will reduce speech and language delays. Hearing loss is said to be progressive for Type II. New studies show it is possible for type IV to be dominant and progressive. Lifespan is normal, unless affected by other traits
Tips or Suggestions of Waardenburg Syndrome has not been added yet.
References of Waardenburg Syndrome has not been added yet.
National Different Colored Eyes Day Created by RareshareTeam
Last updated 8 Aug 2018, 12:45 AM

Posted by RareshareTeam
8 Aug 2018, 12:45 AM

National Different Colored Eyes Day was about a month ago, and many people living with Waardenburg Syndrome observed the "holiday."  However, Waardenburg Syndrome presents a set of challenges outside of this unique feature.  What symptoms have you experienced?  Have you ever met another individual with Waardenburg Syndrome?

Type I and progressive hearing loss Created by heidgerken
Last updated 21 Aug 2009, 05:36 AM

Posted by heidgerken
21 Aug 2009, 05:36 AM

Thanks for the response. After more evaluations, it appears we had one bad audiological evaluation. Switching audiologists made all the difference! For now, at least, the Type I diagnosis remains.

Posted by mishel1bell
19 Aug 2009, 05:23 AM

yes, I have progressive profound deafness. The doctors did biopsies of my intestines, He believes with the aganglionosis I have type IV.

Posted by heidgerken
2 Jun 2009, 05:49 AM

My son was diagnosed with hearing loss associated with Type I WS shortly after birth. Now at 8 months of age it appears his hearing loss may be progressing, which is not typical. Anyone else have experience with this?

Mystery Diagnosis - Looking for diagnosis stories Created by MysteryDiagnosis
Last updated 19 Aug 2009, 08:40 PM

Posted by MysteryDiagnosis
19 Aug 2009, 08:40 PM

Hello, Mystery Diagnosis of Discovery Health Channel and TLC is now casting for it’s eighth season. We feature true stories of people who have been diagnosed with a rare disorder and had trouble reaching a diagnosis. Our show is a great outlet for people to share their stories and help create awareness for orphan diseases. We are looking for candidates with Waardenburg Syndrome that fit our criteria and would be interested in telling their diagnosis story. Ultimately we are looking for candidates that experienced the full range of symptoms associated with this disease and had a hard time getting diagnosed and even may have been misdiagnosed before the official diagnosis was given. Candidates must have their diagnosing doctor, family and/or friends willing to testify their story. If you have any interest in this project please email me at mysterydiagnosiscasting@gmail.com. I look forward to hearing from you. Thanks, Katie Mystery Diagnosis

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National Different Colored Eyes Day

Created by RareshareTeam | Last updated 8 Aug 2018, 12:45 AM

Type I and progressive hearing loss

Created by heidgerken | Last updated 21 Aug 2009, 05:36 AM

Mystery Diagnosis - Looking for diagnosis stories

Created by MysteryDiagnosis | Last updated 19 Aug 2009, 08:40 PM


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