Waardenburg syndrome

Causes and symptoms of Waardenburg syndrome

Waardenburg syndrome refers to several forms of a congenital disorder that causes hearing loss, changes in pigment of the eyes, skin and hair and changes in facial shape.

What is Waardenburg syndrome?

The syndrome is named after DJ Waardenburg, the Dutch ophthalmologist who identified this condition in 1951. Symptoms can appear at any time during the lifetime of the person who has it, but not all people with Waardenburg syndrome will deal with the same symptoms, and not all will lose their hearing, despite it being the most common symptom.

How many types of Waardenburg syndrome are there?

Four distinct Waardenburg syndrome types have been identified by researchers: type 1, type 2, type 3 and type 4. However, additional subtypes may exist.

Waardenburg syndrome type 1


The main symptoms of Waardenburg syndrome type 1 are:

  • ectopia: the lateral displacement of the medial eyelid angles, resulting in a large space between the eyes;
  • ocular heterochromia: the two irises of the eyes are often different colors; 
  • presence of strands of hair and white fuzz;
  • sensorineural hearing loss 

Waardenburg syndrome type 2

The main symptoms of Waardenburg syndrome type 2 are:

  • congenital hearing loss more common than type 1, affecting about 50% of people;
  • changes in pigment of the hair, skin and eyes; 
  • there is no large space between the eyes in type 2.

Type 3: Klein-Waardenburg syndrome


Type 3, also called Klein-Waardenbur syndrome, is similar to the first two. The main symptoms of Waardenburg syndrome type 3 are: 

  • hearing loss and pigment changes
  • a wide nose and a large space between the eyes

However, the feature that distinguishes type 3 most from the others is a problem with the upper limbs, namely weak arms or shoulders or joint deformities. 

Type 4: Waardenburg-Shah syndrome

Type 4 is the last syndrome identified and much like the other types, it causes changes in pigmentation and can lead to hearing loss. People with this form of Waardenburg syndrome often suffer from a condition called Hirschsprung's disease, which can cause severe constipation and intestinal blockage.

Genetic causes: on which chromosome is Waardenburg syndrome located?

Waardenburg syndrome is a genetically heterogeneous disease: mutations have been identified in 6 different genes: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). 

Some of these mutations are associated with types 1 and 3 of the syndrome, which follow an autosomal dominant pattern of inheritance. This means only one of the two parents must have this disorder to inherit it. Types 2 and 4 also follow a dominant inheritance pattern, but they can still be inherited by following a recessive genetic pattern in which mutated genes can hide for several generations before being inherited.

How common is Waardenburg syndrome?

The worldwide prevalence is estimated at 1 case per 20,000-40,000 individuals. Waardenburg syndrome types 1 and 2 are the most common, while types 3 and 4 are rarer. In total, the syndrome is responsible for about 3% of all cases of congenital hearing loss.

How is Waardenburg syndrome treated?

There is currently no cure for Waardenburg syndrome, but a person with this disorder has an average life expectancy and can lead a normal life. However, it is critical to treat symptoms as they appear. Common treatments include

  • cochlear implants or hearing aids for hearing loss;
  • surgery to prevent or remove intestinal blockages.
  • surgery to correct cleft palate or cleft lip;
  • cosmetic treatments for hair and skin;
  • psychological and educational support during the school years.

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