Waardenburg syndrome

What is Waardenburg syndrome?

Waardenburg is a group of rare genetic disorders that occurs in around 1 in every 40,000 births.

The syndrome is made up of four genetic disorders, named Type 1-4. Type 1 and 2 are the most common, while type 3 usually causes the most severe symptoms.

Auditory and pigmentary (relating to the skin) abnormalities are the main characteristics of the syndrome. However symptoms of this rare disease may vary considerably between individuals.

What gene changes cause Waardenburg syndrome?

Mutations in six genes, including the SOX10, EDN3 and EDNRB, TYR, SNAI2, WS2C, MITF, WS2B genes, cause the syndrome.

The disease is an inheritable condition. Types 1 and 3 are inherited in an autosomal dominant pattern. Types 2 and 4 may be inherited in either an autosomal dominant or recessive pattern.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Waardenburg syndrome?

The main symptoms of the syndrome may vary in their severity between individuals and according to the type of the condition developed.

Hearing loss, changes to the color of the eyes, skin, hair and shape of the face are common symptoms between individuals with the syndrome. These changes may include spots in the eyes, and premature greying of hair.

Other potential physical characteristics of the syndrome include problems with producing tears, a small colon, an abnormally shaped uterus, cleft palate, partial albino skin, white eyelashes or eyebrows, a wide nose and a unibrow.

How does someone get tested for Waardenburg syndrome?

The initial testing for Waardenburg syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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