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.
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.
Last updated 8 Aug 2018, 12:45 AM
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?
Last updated 21 Aug 2009, 05:36 AM
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.
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.
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?
Last updated 19 Aug 2009, 08:40 PM
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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After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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I am a woman diagnosed by a board certified medical geneticist Alan Donenfeld MD at Pennsylvania with waardenburg syndorm2, Manifested as left eye half blue half hazel.Flat bridge little nose ...
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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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