Waardenburg Syndrome

Waardenburg Syndrome (WS) is a rare hereditary disease that leads to loss of hearing in varying degrees as well as various other physical problems. Read on to get detailed information about the condition, including its causes, symptoms, diagnosis and treatment.

What is Waardenburg Syndrome?

It is a genetic disorder associated with hearing problems and changes in pigmentation of hair, skin and eyes.

Picture 1 – Waardenburg Syndrome

Waardenburg Syndrome Synonyms

The disorder is known by many different names, such as:


  • Mende’s Syndrome II
  • Ptosis-Epicanthus Syndrome
  • Van der Hoeve-Halbertsma-Gualdi Syndrome
  • Van der Hoeve-Halbertsma-Waardenburg Syndrome
  • Van der Hoeve-Waardenburg-Klein Syndrome
  • Vogt’s Syndrome
  • Waardenburg-Klein Syndrome
  • Waardenburg Shah Syndrome
  • Waardenburg’s Syndrome II

Waardenburg Syndrome Incidence

This disease occurs in 1 out of 15000 patients and affects people of all age and race to the same extent.

Waardenburg Syndrome Types

There are four different types of WS that can be recognized with the help of distinct characteristics:

Type 1

There is wide space between the inner corners of the eyes.

Type 2

There is no wide space between the inner corners of the eyes.

Type 3

Hearing loss is observed.

Type 4

All the symptoms of WS are observed along with that of Hirschsprung disease.

An important thing to consider here is that the type 1 and type 2 are more common in comparison to the type-3 and type-4 disorder.

Waardenburg Syndrome Causes

The disease arises due to mutations in the following genes:

  • EDN3
  • MITF
  • PAX3
  • SNAI2
  • SOX10

These genes are responsible for the development and growth of various cells in the body, including the melanocytes. Melanocytes are associated with normal hearing and are responsible for the proper color of hair, eyes and skin.

Know about the genetic mutations involved in different types of this disease.

Type 1

It is caused due to mutations in the PAX3 gene. The mutations that are generally observed are frame shift, deletion, non-sense and splice site.

Type 2

It arises due to mutations in the MITF gene. In this type too, all the common types of mutations can occur.

Type 3

It results from mutations in the PAX3 gene.

Type 4

It occurs as a result of mutations in the EDN3 or EDNRB gene. It must be noted that only the homogenous mutations are responsible for WS while the heterogeneous mutations cause Hirschsprung disease.

Symptoms of Waardenburg Syndrome

Although the symptoms of the disorder vary from one patient to another, there are some problems that are common among sufferers. These include:

Changes in ocular color

Eyes of different colors or pale colored eye is observed. Another variation is the iris having two different colors.

Abnormalities in hair color

The hair coloring is also noticeable. For instance, a patch of white hair may appear at an early age.

Loss of hearing

Hearing loss is also observed in all the patients but the degree of hair loss differs. Again the level of hearing loss can also be different in both the years.

Intestinal or spinal disorders

In a few cases, it has been observed that this syndrome may result in other disorders – such as that of the intestine and the spine.

Connecting eyebrows

This might be observed in some patients.

Abnormal widening

There might be abnormal widening between the spaces near the inner corner of the eye.

Cleft lip

This might be observed in some individuals affected with the disorder.


It is also quite common, especially in patients with Type 4 WS.

Swelling and pain can also occur in few cases.

Inheritance of Waardenburg Syndrome

In a few patients with WS, only one parent has been observed to be suffering from the disorder. This is due to the fact that the disease is autosomal dominant in pattern. In other words, only one copy of altered gene is required for the condition to arise. Most often, parents are not affected but only act as carriers of a single copy of the gene.

Only some cases of type 2 and type 4 syndromes are apparently autosomal recessive in pattern.

Waardenburg Syndrome Diagnosis

The diagnosis of this disease involves:

Analysis of physical features

Although the symptoms of WS vary from one person to another, there are some common problems that can be used to diagnose the disease. These include features like:

  • Pale or brilliantly blue colored eyes
  • White hair color
  • Difficulties in moving

Evaluation of Family History

Once the physical features are noticed, the evaluation of family history can provide vital clues for the confirmation of the syndrome. At least three generations should be studied and the genetic mutations observed carefully.


As aforementioned, hearing problems are quite common to this condition. In order to examine the hearing status, the technique of Tomography may be used.

Waardenburg Syndrome Treatment

The treatment of WS is not yet discovered. As such, the curative measures only aim to treat the symptoms of the syndrome. Again, the approach for treatment mainly involves dealing with the problems related to hearing.

Picture 2 – Waardenburg Syndrome Image

The treatment for WS mainly involves:

Management of hearing loss

Hearing aids may be used to treat the hearing problems resulting from this condition. Hearing aids help patients by making sounds more audible for them. Cochlear implant is another alternative that is recommended only in case of major hearing loss. A physician must also be consulted for the risks and benefits associated with this implant. In case the above methods fail to improve the hearing condition, sign language can be taught to the sufferers of this disorder. It provides patients with an alternative medium of communication.

Aganglionic megacolon Management

Aganglionic megacolon is found in the Type 4 disorder. It can be managed by using laxatives, or a pull through procedure (in patients aged 10-15). Another option is to provide a diet full of fiber to patients to relieve them of constipation.

Physical Therapy

In a few patients, the use of physical therapy and exercises is recommended for the treatment of problems related to mobility. Supportive devices may be used in those affected individuals who are not able to walk or move on their own.

Parental and Social Support

It is very important to treat an affected child normally. A kid suffering from WS should be treated like other children and provided with all the assistance required. Parents of such children should also take interest in learning new management techniques through journals and internet. They should also extend full co-operation to pathologists and doctors during treatment.

Waardenburg Syndrome Prevention

The chances of occurrence of this disorder can be predicted with the help of genetic counseling. The technique involves testing parents having the genetic mutations which can pass on to their offspring and give rise to WS. The information provided beforehand can help parents prepare for proper management of the disorder.

If you have a suspected WS sufferer at home, seek medical attention as early as you can. In case your partner or you have a family history of this disease, get in touch with a specialist to understand the possibilities of your child having this disorder.

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