ABCD syndrome by Mathew https://padlet.com/MathewT/co60ekqcebo4 This wall is about my genetic disorder: ABCD syndrome. Created by: Mathew Teruel en-us 2017-05-19 12:37:12 UTC 2025-12-12 15:40:47 UTC hello@padlet.com https://i.ytimg.com/vi/jPHODoqRrBU/maxresdefault.jpg Scientific and common name? MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/172789748 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.)]]> 2017-05-19 12:47:54 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/172789748 Who and when was it discovered? MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/172790541 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.]]> 2017-05-19 12:51:08 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/172790541 Picture of ABCD syndrome MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173725413
  • Waardenburg syndrome Type 1, WS1
    • ]]>     2017-05-24 22:22:48 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173725413     Waardenburg syndrome type 1 (ABCD syndrome) MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173727560

    ]]>     2017-05-24 22:53:18 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173727560     Boy with ABCD syndrome MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173728512 2017-05-24 23:07:26 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173728512 Are there any treatments? MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173728788 No treatments have been found to cure ABCD syndrome.]]> 2017-05-24 23:11:41 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173728788 MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173729047 2017-05-24 23:15:20 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173729047 When is it diagnosed? MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173729895 ABCD syndrome is diagnosed at birth.]]> 2017-05-24 23:26:47 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173729895 How does it affect your life and life span? MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173730639 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 ]]> 2017-05-24 23:34:51 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173730639 What does it affect? MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173734842 ABCD syndrome affects: eye color, hair color, width of eyes, hearing (hearing loss), skin color (patches of white skin).]]> 2017-05-25 00:22:49 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173734842 What chromosome carries its trait? MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173736417 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. ]]> 2017-05-25 00:39:06 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173736417 Symptoms MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173799081
  • 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).
    • ]]>     2017-05-25 11:43:18 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173799081     Different color iris MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173800082 ABCD syndrome]]> 2017-05-25 11:51:52 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173800082 Waardenburg Syndrome Explanation MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/173801949 2017-05-25 12:07:16 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/173801949 13th Chromosome MathewT https://padlet.com/MathewT/co60ekqcebo4/wish/174386475 2017-05-30 11:32:28 UTC https://padlet.com/MathewT/co60ekqcebo4/wish/174386475