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Type 1, 2, 3 and 4

Causes and symptoms of Waardenburg syndrome

Waardenburg syndrome refers to various forms of a hereditary disease that leads to hearing loss, pigmentation disorders of the eyes, skin and hair and changes in the shape of the face.

What is Waardenburg syndrome?

Waardenburg syndrome was first described by the Dutch ophthalmologist P. J. Waardenburg in 1951. The symptoms of the condition may develop at any age, but they can vary widely among affected individuals, and not all individuals with Waardenburg syndrome experience hearing loss, which is the most frequent symptom.

4 types of Waardenburg syndrome

Although there may be additional subtypes, four types of Waardenburg syndrome have been identified by researchers:

Type 1

Waardenburg syndrome type 1 is characterised by several symptoms: 

  • ectopia, which is the lateral displacement of the inner corners of the eyelids resulting in increased eye distance; 
  • heterochromia of the iris, where the iris of the eyes has a different colour; 
  • white tufts or patches of white hair; 
  • and sensorineural hearing loss.

Type 2

Common symptoms in Waardenburg syndrome type 2 include congenital hearing loss, which is more common than in type 1 and affects around 50 per cent of those affected, and pigmentation disorders of the hair, skin and eyes. 

However, unlike type 1, the distance between the eyes does not increase in type 2.

Type 3

Type 3, also referred to as Klein-Waardenburg Syndrome, shares similarities with the first two types in terms of hearing loss and pigmentation disorders. 

However, individuals with this type have a wider nose and greater distance between their eyes. 

The unique characteristic of type 3 is the presence of upper limb issues, which can be exhibited through arm or shoulder weakness or abnormalities in the extremities.

Type 4

Type 4 Waardenburg syndrome is characterised by pigmentation disorders similar to other types and can also lead to hearing loss. 

Additionally, individuals with this type of Waardenburg syndrome are often affected by Hirschsprung's disease, a condition that can cause severe constipation and intestinal obstruction.

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Causes - Is Waardenburg syndrome genetic?

The genetic cause of Waardenburg syndrome is diverse. Mutations in six different genes have been identified in individuals affected by the condition, which are PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). 

Mutations in some genes cause types 1 and 3 of Waardenburg syndrome to follow an autosomal dominant mode of inheritance. This means one parent with the mutation is enough for it to be inherited. Types 2 and 4 also follow a dominant mode of inheritance but can be inherited recessively. In this case, the altered genes may remain hidden for several generations before appearing.

How rare is Waardenburg syndrome?

Waardenburg syndrome has an estimated worldwide incidence of 1 in 20,000-40,000 people, with types 1 and 2 being more common and types 3 and 4 being less common. The syndrome is responsible for about 3% of all cases of congenital hearing loss.

Treatment and therapy options

Currently, there is no known cure for Waardenburg syndrome. 

However, the syndrome does not affect life expectancy, and people affected by it can lead a normal life. It is important to manage the symptoms as they arise. The typical treatments for the syndrome are:

  • Cochlear implants or hearing aids to compensate for hearing loss;
  • Surgery to prevent or eliminate intestinal obstructions;
  • Operations to correct a cleft palate or harelip;
  • Cosmetic skin and hair treatments;
  • Psychological and educational assistance during the school years.
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