EDUDEAF: Waardenburg Syndrome

Key Words: Deaf Education Information, Deafness Related Issues, Additional Dissorders

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Subj: Re: Waardenburg Syndrome
Date: 97-02-17 13:15:09 EST
From: dhag@MTSI.COM (DeLores)
Sender: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)
Reply-to: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)

To: EDUDEAF@LSV.UKY.EDU (Multiple recipients of list EDUDEAF)

Yes, I have the same article. I would like to know how many deaf people on this list KNOW for a fact that they have this syndrome. Our family has been asked to participate in a research project at Boston University.

DeLores Wilson
dhag@mtsi.com
Hillsboro, Oregon, USA

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Subj: Re: Waardenburg Syndrome
Date: 97-02-17 02:31:37 EST
From: NIKKIEKLE@AOL.COM (Nikki DeMers)
Sender: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)
Reply-to: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)

To: EDUDEAF@LSV.UKY.EDU (Multiple recipients of list EDUDEAF)

Delores,

I have Waardenburg Syndrome (color of eyes)...my dad had one (same as mine).. One deaf cousin of our families has one, too. Both of my hard of hearing and hearing kids have slightly one by eye wide but did not show obviously. Their eye specialist told me about that when they were little. I would like to know what percent of Waardenburg Syndrome population (deaf/hard of hearing) is?

Nikki DeMers
Vancouver, Wash.

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Subj: Re: Waardenburg Syndrome
Date: 97-02-17 02:46:14 EST
From: careyp@earthlink.net (Phillip & Susan Carey)
Sender: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)
Reply-to: careyp@earthlink.net

To: EDUDEAF@LSV.UKY.EDU (Multiple recipients of list EDUDEAF)

I was curious about this syndrome so I looked this up. Here is what I found:

Waardenburg Syndrome

A Dutch eye doctor, P. J. Waardenburg, was the first to notice that some people with two different colored eyes frequently had hearing problems. Dr. Waardenburg went on to study other chraacteristics of the syndrome which is now named after him.

The Waardenburg syndrome (WS) gene affects the body in three primary ways: hearing , pigmentation (coloring) of the skin, hair and eyes, and facial structure. Hearing. There is a great deal of variation in the sensorineural hearing loss among people with WS. At least half of those with the gene have no hearing problems. Only about one out of five have a hearing loss severe enough to require some aid to verbal communication. Some with the gene are totally deaf, and others are deaf in one ear, yet have completely normal hearing in the other ear.

Pigmentation. One of the noticeable effects is two different colored eyes (heterochromia irides). Usually, one eye is brown and the other is blue. occassionally, patches of brown and blue are mixed in the same eye. The blue eye color is often described as a "bright" blue. As with hearing loss, not everyone who carries the gene has two different colored eyes. in fact, in some large families with WS there may be only one or two such individuals. However, a person having two different colored eyes is so noteworthy that it almost always automatically raises the question of WS in that family.

In addition to the distinctive eye coloring, those with the WS gene may also have a distinctive coloring of the hair (poliosis). more frequently. one sees a white forelock, a patch of white hair starting at the front of the head and extending backwards. in addition, gene carriers become gray prematurely (in their twenties of thirties). Again, not all gene carriers have these distinctive markings. Also, premature graying of the hair and white forelock are common enough in the population that when they do occur, you cannot necessarily presume that the WS gene is present in the family.

Facial structure. People with WS have a certain kind of look noticeable to the trained eye, but not so unusual that it is noted by the average person. The main feature is that the eyes appear to be more widely spaced than average. Usually, the eyes are not more widely spaced, but only appear so because the part of the face between the eyes is broader. If you have been to a geneticist who suspected WS, he or she probably measured the distance between your eyes to aid in the diagnosis. Synophris, or eye brows that grow together in the center, are sometimes a feature also. In addition to the three primary feature, there also can be cleft lip and or cleft palate or a colon problem (Hirschprung disease) in some individuals with WS. These last two features are even less common than the primary features. Other than the hearing loss, most people with WS do not have any particular medical problems. The facial feature and the pigmentary changes just help in making the diagnosis and cannot be considered abnormal. In fact these feature, especially the bright blue eyes are quite pretty.

Since WS is inherited in a dominant fashion, we typically see families with several generations of family members who have one or more of the features. Many of these family members are unaware that they have the gene because the feature can be so mild. In fact some individuals with the gene may not have any of the feature that we can detect. The chance of passing on the gene to their children is 50% regardless of the features they possess. of course, someone in a WS family who does not have the gene, cannot pass it on.

WS may be much more common in our population than previously believed. As many as two to three out of every hundred children in the schools for the deaf may have WS. Since the majority of those with the gene have little or no hearing loss, we believe that for every child we see with WS and a severe hearing loss, there are four to five family members who have relatively normal hearing but also have the gene.

There are mice that are called splotch mice because they have splotchy coloring in their coats. Scientists suspected that the gene that cause the splotchy coloring in the mice might the same gene that causes WS in humans. Since mice are easier to study, they were able to identify the gene that causes splotch in the mouse first. They then studied humans and found that there is the same gene in humans and it causes WS. The gene is named pax3 and is on human chromosome 2. With a mouse "model" to study, scientists are learning much about how the pax3 gene causes WS.

This publication is a product of the National Institute on Deafness and Other Communication Disorders (NIDCD) Hereditary Hearing Impairment Resource Registry (HHIRR).

The HHIRR is designed to be a national resource in the study of hereditary hearing impairment through three primary functions. First, the HHIRR disseminates information to professionals and families about hereditary hearing impairment and advances in research in this area. Second, the HHIRR collects information from individuals with hearing impairment/ deafness who are interested in supporting this research. Third, the HHIRR matches families with appropriate research projects.

For more information, contact us at:

NIDCD HHIRR
555 N. 30th Street
Omaha, NE 68131
(800( 320-1171 (V/TDD)
(402) 498-6331 (FAX)
E-mail: NIDCD.HHIRR@boystown.org. Click here to send e-mail.
WWW URL: http://www.boystown.org/hhirr/

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Subj: Re: Waardenburg Syndrome
Date: 97-02-17 07:47:10 EST
From: almarvel@SOPHIA.SMITH.EDU (Alan L. Marvelli)
Sender: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)
Reply-to: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)

To: EDUDEAF@LSV.UKY.EDU (Multiple recipients of list EDUDEAF)

Nikki,

According to a text in our professional library on heredity and deafness the rate of deafness is 20% with this syndrome. Sorry, I do not have the book in my collection but if you need the title, I can find it for you.

Alan L. Marvelli _/_/_/_/ _/_/_/_/
Smith College/Clarke School for the Deaf _/ _/
Graduate Teacher Education Program _/_/_/_/ _/ _/
Northampton, MA 01063 _/ _/
413-585-3050 almarvel@sophia.smith.edu _/_/_/_/ _/_/_/_/

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Subj: Re: Waardenburg Syndrome
Date: 97-02-21 20:10:55 EST
From: dhag@MTSI.COM (DeLores)
Sender: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)
Reply-to: EDUDEAF@LSV.UKY.EDU (A Practical Discussion List Regarding Deaf Education)

To: EDUDEAF@LSV.UKY.EDU (Multiple recipients of list EDUDEAF)

Type 1 WS has been identified as being located on PAX3 gene. The exact mutation can be detected in only 50% of cases tested. MITP gene causes 10-20% of Type 2 WS. Still lots of research being done to identify the other 80% of Type 2 and 50% of Type 1.

Our family is part of a research project into this at Boston University Medical School.

DeLores Wilson
dhag@mtsi.com
Hillsboro, Oregon, USA

Uploaded by: B.J. Lawrence / Kent State University / Deaf Education Major