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Waardenburg syndrome is named after Dutch opthalmologis Petrus Johannes Waardenburg who described the syndrome in 1951, ophthalmologist David Klein also made contributions towards the understanding of the syndrome. The ABCD syndrome was originally called type 1 of the Waardenburg syndrome but later, the syndrome got the name: ABCD syndrome.

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How does it affect your life and life span?

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How does it affect your life and life span?

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ABCD syndrome affects your life because it is common that someone with ABCD syndrome will be death. This syndrome may also effect your life because since you might have weird facial features, you have a higher chance of being bullied just because you look different. ABCD syndrome does not afffect your life span at all

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There is no scientific name but, the ABCD syndrome can also be called the Waardenburg syndrome. There are different types of the Waardenburg sydrome and ABCD syndrome is type 1(WS1). Type 1 of the Waardenburg syndrome is called ABCD syndrome because the main symptoms  of the disease gave it a acronym-ABCD (Albinism, Black locks,Cell migration disturbance, Deafness.)

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Waardenburg syndrome Type 1, WS1

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ABCD syndrome

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united states medical licensing examination

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Waardenburg's Syndrome - CRASH! Medical Review Series

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(Disclaimer: The medical information contained herein is intended for physician medical licensing exam review purposes only, and are not intended for diagnosis of any illness. If you think you may be suffering from any medical condition, you should consult your physician or seek immediate medical attention.)

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ABCD syndrome is diagnosed at birth.

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ABCD syndrome affects: eye color, hair color, width of eyes, hearing (hearing loss), skin color (patches of white skin).

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Waardenburg syndrome                 type 1 (ABCD syndrome)

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Waardenburg syndrome                 type 1 (ABCD syndrome)

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ABCD syndrome is cause by a mutation in the ENDRB (Endothelin Receptor Type B) which is located on the 13th chromosome. The ABCD syndrome is a dominant allele.

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No treatments have been found to cure ABCD syndrome.

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Very pale or light blue eyes.

Eyes with different colored iris.

A patch of white hair or patches of premature grey hair.

Wide eyes.

Patches of white skin (pigmentation).