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.
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.
The main symptoms of Waardenburg syndrome type 1 are:
The main symptoms of Waardenburg syndrome type 2 are:
Type 3, also called Klein-Waardenbur syndrome, is similar to the first two. The main symptoms of Waardenburg syndrome type 3 are:
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.
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.
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.
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