Waardenburg Syndrome

By | June 10, 2022

Waardenburg syndrome is a congenital disease that is subordinate to leucism and divided into four different types. Typical signs are deafness, malformations and pigment disorders. Since Waardenburg syndrome is a genetic disease, it cannot be treated causally.

What is Waardenburg Syndrome?

Waardenburg syndrome is a type of leucism that laypeople often confuse with albinism. Both leucism and albinism are characterized by a lack of pigment. The Waardenburg syndrome owes its name to Petrus Johannes von Waardenburg, who was the first to describe the clinical picture in 1951. For definitions of hypophysitis, please visit lawfaqs.net.

A person with leucism has no melanocytes, i.e. no skin cells that form pigments. The majority of melanocytes reside in the epidermis and around the hair follicles. The pigments are not only found in the skin, but also in the eyes, where the retina and iris also form pigments. They are not only used for visual design.

They protect the skin or the cells of the eye from excessive exposure to light. The pigment melanin can be either brown to black or yellow to reddish. As a rule, there are mixtures of both variants, which form the characteristic color picture of the pigment cells.


Waardenburg syndrome is due to a mutation in the genome. The deoxyribonucleic acid (DNA) shows deviations compared to healthy DNA. Depending on the gene affected, the disease manifests itself in different ways. Type I and type III (Klein-Waardenburg syndrome) are due to a mutation in the gene PAX, at gene location 2Q35.

In type II, the MITF gene is responsible for the inheritance of the syndrome. Various gene sections can be mutated there. For this reason, medicine sometimes further differentiates type III into subtypes A, B, C and D. Externally, however, the subtypes hardly seem to differ from each other. Various gene sections on the endothelin-3 gene or the endothelin-B receptor gene can also be considered as mutation sites for type IV.

All four types of Waardenburg syndrome are autosomal, which means they are on one of the autosomes, not on the X or Y chromosome. Types I, II and III are recessive: the syndrome only manifests itself if the double set of chromosomes has two disease-carrying genes. However, if a person not only has a mutated but also a healthy gene segment, the disease does not break out. Such a person can still pass Waardenburg syndrome on to their children.

Symptoms, Ailments & Signs

The most striking symptom of Waardenburg syndrome is the pigment disorder, which is mainly reflected in three areas. The forelock is colorless in people with Waardenburg syndrome and therefore appears white. The eyes are different colors because the irises of both eyes do not produce pigment in every area.

Areas that do not contain pigment appear blue in the iris. The remaining areas form the dyes as they are genetically predetermined. Medicine also refers to this phenomenon as iris heterochromia. In addition to the white forelock and iris heterochromia, type I Waardenburg syndrome also manifests as white spot disease or check skin ( vitiligo ).

This is how doctors describe the lack of pigment in the skin, which is particularly evident on the hands, neck, face and anogenital area. Deafness and facial deformities also manifest themselves : a high and wide bridge of the nose are just as characteristic as tissue or organs that form in the wrong place (dystopia canthorum).

Dystopia canthorum does not occur in type II Waardenburg syndrome, although type II otherwise corresponds to type I. Type III has all the symptoms of type I; in addition, malformations of the arms occur. The most serious form of Waardenburg syndrome is type IV, which often results in the death of the person affected.

The differentiation of certain neurons is also disturbed in this form of the disease, which also leads to the development of Hirschsprung’s disease (congenital megacolon). This intestinal disease manifests itself, among other things, in the narrowing of the large intestine.

Diagnosis & course of disease

Waardenburg syndrome is congenital. Early in the development of the child in the womb, the mutation interferes with proper development, giving rise to the various symptoms. Doctors cannot diagnose Waardenburg syndrome based solely on the physical characteristics: they can use genetic testing to determine whether one of the mutations that trigger the syndrome is present.


Waardenburg syndrome can lead to various complications. A typical consequence of the disease is the characteristic pigment disorder. Depending on how severe it is and the age at which it first appears, this conspicuous blemish can result in serious psychological problems. Those affected often develop social anxiety or even full-blown depression.

In type I Waardenburg syndrome, vitiligo also occurs, which can intensify the mental suffering mentioned. Furthermore, as the disease progresses, hearing loss and facial deformities can occur. A possible complication of Waardenburg syndrome is Hirschsprung disease. This bowel disease is associated with a narrowing of the colon.

It can lead to serious gastrointestinal problems, which can manifest themselves in constipation or even in an intestinal obstruction. Since the syndrome is hereditary, there are hardly any treatment options and the disease often takes a severe course, which is associated with permanent cognitive and aesthetic impairments for those affected.

Symptomatic therapy is also not risk-free. The administration of cortisone can cause skin irritation and other side effects. Surgical interventions, such as those used to treat intestinal problems, are always associated with a risk of infection and injury.

When should you go to the doctor?

Since Waardenburg syndrome cannot heal on its own, the person affected should see a doctor. Early detection and subsequent treatment of the disease always has a very positive effect on the further course and can also prevent further complications. Therefore, a medical professional should be contacted at the first signs and symptoms of the syndrome. A doctor should be consulted if the person concerned suffers from a severe pigment disorder. This often results in a completely colorless skin that appears very white.

It can also lead to the formation of white spots on the skin. Most patients with Waardenburg syndrome also suffer from hearing loss that does not go away on its own. The organs in the body are also arranged incorrectly, which can lead to severe complications. Waardenburg syndrome can be diagnosed by a pediatrician or by a general practitioner. Further treatment depends very much on the type and severity of the symptoms, so that no general prediction can be made about the further course of the disease. Since the syndrome can often lead to psychological upsets, a visit to a psychologist is also very useful.

Treatment & Therapy

Since Waardenburg syndrome is a hereditary disease, causal treatment is not possible. There may be measures that can be taken to alleviate the hearing loss. However, the exact procedure depends on the individual initial situation. In the more serious type IV, doctors also have to treat Hirschsprung disease.


Targeted prevention is not possible with Waardenburg syndrome because it is a hereditary disease. Type IV Waardenburg syndrome follows an autosomal recessive inheritance. The disease therefore only manifests itself if the child inherits one disease-carrying allele from each parent. However, if the genome contains only one diseased and one healthy allele, Waardenburg syndrome does not break out.

Types I–III inheritance, on the other hand, is autosomal dominant: if a person has one mutated gene and one healthy gene, the disease will manifest. However, this person does not necessarily have to pass Waardenburg syndrome on to their child, as they can also inherit the healthy gene. Chance determines whether a parent passes on the disease-carrying gene or the healthy gene to their child.


Waardenburg syndrome requires comprehensive follow-up care. Since it is a congenital disease, causal treatment is not possible. Follow-up care focuses on advising the patient on further therapeutic measures. The pigment disorders and the inner ear hearing loss must be clarified by a doctor at regular intervals.

Follow-up care consists of a patient interview and a physical examination. In the anamnesis, the doctor first gets a picture of the current symptoms. Complaints that have largely subsided do not require any further follow-up care. Pigment disorders and hearing loss are chronic conditions that need to be checked regularly.

If necessary, there are new therapeutic measures between the check-ups that are suitable for the patient. The patient should keep a complaint diary and note any unusual symptoms in it. With the help of the notes, the regular follow-up care can be optimally aligned with the symptoms. Depending on the nature of the complaints, therapeutic help may also have to be sought. Since the syndrome can take a very different course, the measures must be determined individually.

You can do that yourself

The medical treatment of Waardenburg syndrome can be supported by various self-help measures. The typical sensorineural hearing loss can be compensated for by wearing a hearing aid. Family members must speak loudly and clearly, facing the patient while speaking so that the patient can lip-read.

In order to avoid misunderstandings, it is advisable to deal openly with the hearing impairment. This also applies to other symptoms of the disease, such as pigment disorders and visual disturbances, which can develop over the course of life. Patients should obtain detailed information about the ptosis-epicanthus syndrome and decide together with the doctor which remedies will help against the individual symptoms.

In most cases, a wide variety of complaints occur, which can sometimes also represent a psychological burden. Therapeutic support is just as important for patients as physical treatment, especially in the case of depressive moods or anxiety disorders. Parents of children suffering from Waardenburg syndrome should arrange for a genetic test to be carried out. The cause of the hereditary disease can often be determined, which makes it easier to plan for further children. If the symptoms have a very negative effect on your well-being, it can also make sense to visit a self-help group. The association Leona eV provides those affected with further contact points.

Waardenburg Syndrome