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What is type 1 Waardenburg syndrome?
What causes Waardenburg syndrome type 2?
What are the different types of Waardenburg syndrome?
Disease at a Glance. Summary. Waardenburg syndrome type 2 (WS2) is a type of Waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin. WS2 differs from type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi ...
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Diagnostic teams for Waardenburg syndrome type 2 may...
- Living With The Disease
Also known as Shah–Waardenburg syndrome, or Waardenburg–Shah syndrome, type 4 has most of the same features as type 2 (i.e. no telecanthus, or apparent wider eye gap), but with the addition of Hirschsprung's disease, which is a congenital lack of nerves in the intestines leading to bowel dysfunction.
- Klein–Waardenburg syndrome (type 3), Shah–Waardenburg syndrome (type 4)
Aug 15, 2022 · Providers diagnose each type based on your symptoms. These include: Type I: Wide-spaced eyes and a broad nasal bridge. Type II: Moderate to severe hearing loss. Type III (Klein-Waardenburg syndrome): Hearing loss, skin pigmentation changes and bone growth abnormalities of your hands and arms.
May 21, 2015 · For example, Waardenburg syndrome type I (WS1) is characteristically associated with sideways displacement of the inner angles of the eyes (i.e., dystopia canthorum), yet type II (WS2) is not associated with this feature. In addition, WS1 and WS2 are known to be caused by alterations (mutations) of different genes.
Jul 4, 2023 · Type 1 and 2 are commonly reported worldwide, while type 3 is very rarely reported. [7] Type 4 is reported in around 19% of cases of Waardenburg syndrome. In persons with deaf-mutism, the syndrome is observed in 0.9 to 2.8%. It affects all races worldwide with no gender difference.
- Naila Ahmed jan, Ryan K. Mui, Sadia Masood
- 2023/07/04
Waardenburg syndrome types I and III are caused by variants in the PAX3 gene. Variants in the MITF or SNAI2 gene can cause Waardenburg syndrome type II. Variants in the SOX10, EDN3, or EDNRB gene can cause Waardenburg syndrome type IV. In addition to melanocyte development, these genes are important for the development of nerve cells in the ...
Disease Overview. Waardenburg syndrome type 2 (WS2) is a type of Waardenburg syndrome characterized by varying degrees of deafness and pigmentation (coloring) abnormalities of the eyes, hair and/or skin.
