What is Waardenburg Syndrome?

Causes of Waardenburg Syndrome

Who is at risk?

Treatment of Symptoms

Physical Characteristics

Is it WS, or something else?

WS Types 1 & 3

WS Types 2 & 4

What is Waardenburg Syndrome?

Syndrome is a word describing a group of physical features that occur together. People who have WS usually have a unique appearance. This uniqueness is caused by changes in their genetic makeup.

Waardenburg Syndrome is a genetic condition that causes a person to be born with unusual facial features and hearing loss. These physical problems may appear over the course of the person's lifetime. Not everyone with WS will have all the features of the syndrome, and not everyone will have a hearing loss, but there is an increased chance that they will.

Waardenburg Syndrome was identified in 1951 by P.J. Waardenburg, a Dutch ophthalmologist who noticed that many of his patients had unique facial features and deafness. Since that time, four specific types of WS have been described.

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Causes of Waardenburg Syndrome

Genes are responsible for directing growth and development of human beings. When genes are mutated, or different from normal, they may cause changes in normal growth and development. In WS, the mutated genes are responsible for distribution of pigment in the body of the developing embryo and fetus. These genes may cause pigment to be distributed abnormally. When this happens, some areas of the body may have too much or too little pigment, or no pigment at all. Pigment changes can produce unusual eye, skin, or hair color as well as deafness. Scientists do not yet understand exactly what causes the genetic mutations that produce WS, although the genes themselves have been identified.

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Who is at risk?

An estimated 1 in 4000 individuals are born with WS. WS occurs in all races, and occurs equally in males and females. In most types of WS, there is a 50% chance that a child born to a parent with a normal gene and a parent with the WS gene will have WS. Anyone can be born with WS as a result of a new genetic mutation.

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Treatment of Symptoms

Treatment depends on the phenotype of the individual with Waardenburg Syndrome. You can get treatment for any of the following phenotypic signs:

1) Hearing loss

2) Hirschsprung's disease (HD)

3) Cosmetic issues

4) Cleft palate

5) Hand and finger contractures

Treatment for these characteristics involves genetic counseling and/or referral to appropriate medical professionals such as an audiologist, speech pathologist, physical therapist, and plastic surgeon.

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Physical Characteristics

Physical characteristics of WS are classified as major or minor. To be diagnosed with WS a person must demonstrate two major characteristics, or one major and two minor characteristics of the syndrome. Not everyone who has WS will have all of these features, and not all features of the syndrome will be present at birth. Some features develop later in life, and some become more pronounced with age.

Major characteristics are listed below. Descriptions of each are located here.

• 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, with descriptions available here:

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

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Is it WS, or something else?

Many conditions have similar symptoms, and WS is no exception. The only absolutely accurate way to tell if someone has WS is by genetic testing. However, genetic testing is not yet available for all types of WS. If you think that you or someone you know has WS, be sure to look for a pattern of anomalies, not just one or two things.

Some other conditions have features that are also found in WS. These conditions usually cause problems with pigment in the hair, skin, and/or eyes. "Albinism" means lack of pigment in skin, hair, or eyes. A number of physical problems cause albinism, some are hereditary (genetic), and some are not. Descriptions of the conditions listed below are here.

• Piebaldism
• Oculocutaneous Albinism/Ocular Albinism
• Vitiligo
• Horner's Syndrome
• Eye Trauma

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WS Types 1 & 3

WS Types 1 & 3 have very similar physical characteristics. Types 1 & 3 have an autosomal dominant inheritance pattern. This means that if one parent has the gene for WS and the other parent does not, their children have a 50% chance of having WS.

WS1 is associated with congenital, variable sensorineural (permanent) hearing losses.

WS3 is more often associated with progressive sensorineural hearing loss.

Both types have the physical features described elsewhere on this site. These features include heterochromia, bright blue eyes, dystopia canthorum, and pigment anomalies.

WS3 has the additional characteristics of upper limb anomalies and minor joint contractures of fingers and toes.

It is not possible to tell the difference between WS Type 1 and WS Type 3 based on physical appearance. Genetic testing is the only accurate way to distinguish between the two types.

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WS Types 2 & 4

Individuals with WS2 can have features similar to those of WS 1 & 3 except that dystopia canthorum and musculoskeletal anomalies are not present.

WS Type 2

• WS2 has several subtypes based on location of the specific gene that causes the problems. Most of the subtypes are autosomal dominant in inheritance, but some are autosomal recessive. In autosomal dominant types, a child must only receive the WS gene from one parent in order to have WS. In autosomal recessive types, a child must receive the WS gene from both parents in order to have WS.
• The major features of WS2 are heterochromia iridis and sensorineural hearing loss.

WS Type 4 is also called Shah-Waardenburg Syndrome.

• Persons with WS4 may have any or all of the symptoms of WS2.
• People with WS4 have a condition called Hirschsprung's disease (HD). HD usually is discovered shortly after birth, and may be life threatening. HD is a condition that involves colon problems, and an inability to expel feces from the intestines. Someone with HD will develop an enlarged colon, chronic constipation, failure to thrive, and, if surgical intervention is unsuccessful, may die.

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