Waardenburg Syndrome

 

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Random blog day boo yah. As you should know Fridays is random blog day were we talk anything and everything and pretty much run with it. Today's blog is on Waardenburg Syndrome.

Waardenburg Syndrome is caused by a series of mutations in several genes that effect the division and migration of various neural crest cells during embryonic development. There are at least four types which are characterised by various pigmentation deficiencies and a degree of congenital hearing loss. Waardenburg Syndrome effects 1 in 42,000 cases, with Type 1 and 2 being the most common Type 3 and 4 are less common. Descriptions of the syndrome date back to the early 20^th century and is named after Dutch Ophthalmologist (a form of Eye Doctor) and Geneticist Petrus Johannes Waardenburg (1886-1979) who detailed it in 1951. since them the subtypes have been progressively discovered with genes attributed to them mostly during the 1990's and early 2000's.

Type 1 is a mutation in the PAX3 Gene, with Type 3 being a more severe presentation. Type 2 is a mutation of the MITF Gene and Type 4 is a mutation in SOX10. There are other mutations which have their own lettered subtypes and most are autosomal dominant. Type 2 is shown with either bright blue eyes or heterochromia eyes, a white forelock or patches of discoloured skin. Type one has a wide gap in the inner corners of the eyes called Telecanthus or Dystopia Canthorum. With Type 3, the arms and hands are also malformed, whilst those with Type 4 also have Hirschsprungs disease (A birth defect in the nerves of the intestines). There are two other types that can result in the central nervous system (CNS) having developmental delays and muscle tone abnormalities.

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THE WEBSITE BIBLIOGRAPHY:

https://en.wikipedia.org/wiki/Waardenburg_syndrome

https://en.wikipedia.org/wiki/Petrus_Johannes_Waardenburg

https://en.wikipedia.org/wiki/Hirschsprung%27s_disease

https://my.clevelandclinic.org/health/diseases/24012-waardenburg-syndrome

https://en.wikipedia.org/wiki/Ophthalmology

https://rarediseases.org/rare-diseases/waardenburg-syndrome/

https://www.ncbi.nlm.nih.gov/books/NBK560879/

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