Waardenburg Syndrome Type 2A

Below you will find more information about Waardenburg Syndrome Type 2A from Medigest. If you believe that you are suffering from any of the symptoms of Waardenburg Syndrome Type 2A it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Waardenburg Syndrome Type 2A and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Waardenburg Syndrome Type 2A comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

Waardenburg Syndrome type 2 or WS2A for brevity, is a subtype of Waardenburg Syndrome 2 where the variation in the gene involves the MITF or the microphthalmia-associated transcription factor located at the 3p14.1-p12.3. It is also manifest by hearing impairment. It is also said to be an autosomal recessive inasmuch as it need two copies of altered gene to make a person affected with the disorder.

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