Thursday, June 19, 2008

About Waardenburg Syndrome (WS)

My wife and I were discussing a delightful toddler we know reflecting some physical traits of one of the parents. No reason here to discuss the details of anyone's family, but a quick search made me aware of a genetic condition new to me: Waardenburg Syndrome.

My interest was piqued because of the hearing issue. Hearing losses are a family trait from my father's side. I always knew he was "hard of hearing" and it was a matter of some delicacy that we had to speak clearly and loud enough for him to hear. In later years he was able to have surgery that restored his hearing in one ear, after which he said he could hear sounds he hadn't head for thirty years... dogs barking in the yard, rain on the roof, the chiming of the clock (which he had made) in the living room.

His paternal grandparents were both deaf and went to a school for the deaf in Danville, Kentucky. One of the great family stories is that my great-grandfather went courting by horseback some distance to his future wife's home several counties away. They wanted to find out if their newborn could hear. Waiting til the baby was asleep, the father dropped a large rock on the porch, knowing that the noise would wake up the baby. When the baby woke up crying they knew he could hear and took it as a good sign.

Over the years I have decided that neglected childhood ear infections were probably the cause of our family hearing losses. I was very impressed when our pediatrician was able to detect ear pain in our babies long before they could tell us why they were crying. That kind of attention was not available to new parents a few years ago and I remember some horrendous earaches in my own childhood that simply had to "run the course."

This is what I found on the Internets...

Waardenburg syndrome (WS) is an inherited disorder often characterized by varying degrees of hearing loss and changes in skin and hair pigmentation. The syndrome got its name from a Dutch eye doctor named Petrus Johannes Waardenburg who first noticed that people with differently colored eyes often had a hearing impairment. He went on to study over a thousand individuals in deaf families and found that some of them had certain physical characteristics in common.

One commonly observed characteristic of Waardenburg syndrome is two differently colored eyes. One eye is usually brown and the other blue. Sometimes, one eye has two different colors. Other individuals with Waardenburg syndrome may have unusually brilliant blue eyes.

People with WS may also have distinctive hair coloring, such as a patch of white hair or premature gray hair as early as age 12. Other possible physical features include a wide space between the inner corners of eyes called a broad nasal root. In addition persons with WS may have low frontal hairline and their eyebrows may connect. The levels of hearing loss associated with the syndrome can vary from moderate to profound.

Individuals with Waardenburg syndrome may have some or all of the traits of the syndrome. For example, a person with WS may have a white forelock, a patch of white hair near the forehead, and no hearing impairment. Others may have white patches of skin and severe hearing impairment. The severity of the hearing impairment varies among individuals with WS as do changes in the skin and hair.

On rare occasions, WS has been associated with other conditions that are present at birth, such as intestinal disorders, elevation of the shoulder blade, and disorders of the spine. A facial abnormality, known as cleft lip and/or palate, also has been associated with WS.

More details at National Institute on Deafness and Other Communication Disorders

From a support group website link.

Major characteristics are listed below.
• Heterochromia Iridis
• Bright blue eyes
• Dystopia canthorum
• Broad, prominent nasal root
• Small mid-face
• Prematurely gray hair
• Congenital sensorineural hearing loss
• WS Type 4 & Hirschsprung's Disease

Minor characteristics include the following...
• Congenital leucoderma
• Multiple nevi (moles)
• Eyebrow anomalies
• Hypoplastic nasal alae
• Syndactyly
• Receding chin
• Cleft lip and cleft palate
• Spina bifida
• Communication disorders
• Camptodactyly

Here is a link to an informative interview with Alice Kahn, a speech pathologist at Miami University in Oxford, OH.

Linda: So if a speech-language pathologist is aware of the genetic history in a family, he or she would want the family to be aware of newborn hearing screening. But there will also be families who won’t be aware that they have that genetic link to Waardenburg syndrome, correct?

Alice: That’s right. One of my best friends here in Oxford is deaf in one ear and when I met her we talked about her hearing loss. And she said everybody in her family had a hearing loss: her mother did, her grandfather did, etc. I said, “Yes, and you have blue eyes and you have a white patch in your hair.” For her, the syndrome could be traced for four generations. And I explained that her children (who are now adults) were at risk for hearing loss. We tested all four of them. Some of her grandchildren have other signs, not hearing loss, but some intestinal problems that are also characteristics of Waardenburg’s. Very rarely, and in this family unfortunately, you’ll see children born with cleft palate or spina bifida. My friend’s family had a history of these problems and also miscarriages. Her mother had delivered a child with spina bifida, who later died, and also had a child with cleft palate. And in cases like this, a genetic counselor could identify the presence of the syndrome.

Linda: Do you see cognitive problems as a result of the syndrome?

Alice: No. Typically, cognition is not a factor unless the individual has had a neglected profound hearing loss and hasn’t received the help needed, then he or she might have language-learning problems. But that’s related to the hearing loss and not to a cognitive disability.


aqua said...

I was born with white hair forlock. Along with my 4 sisters. We also have several white skin pigmentation. My sisters also have premature gray which started at the age of about 20. We inherited it from my mother who got it from her father who got it from his mom. No one in by family is deaf. Although my mother is slightly hard of hearing. A doctor told my mother that it was waardensburg syndrome when we were young. But we were never tested to find out for sure. We just have those three traits of waardensburg. Do you think it's waardenburg syndrome?

Hoots said...

Interesting. But I'm not the one to ask. I'm just a blogger with a wide range of interests. I have personal knowledge of a couple of obscure medical conditions (not WS) but only because they concern me.

If there is a WS support group you could ask questions and get informed answers without shelling out money for a professional opinion.

Thanks for reading.