What are the causes of Waardenburg Syndrome?

By  ,  Onlymyhealth editorial team
Jul 01, 2011
Quick Bites

  • Waardenburg syndrome is a genetic disorder.
  • In most cases, the syndrome is transmitted as an autosomal dominant trait.
  • It has features such as distinctive facial abnormalities.
  • One may also have an unusually wide nasal bridge due to sideways.

Waardenburg syndrome is a genetic disorder that has features such as distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and/or the iris of both eyes (irides); and/or congenital deafness. One may also have an unusually wide nasal bridge due to sideways (lateral) displacement of the inner angles (canthi) of the eyes (dystopia canthorum).

 

waardenburg syndrome

 

Cause

As a genetic disorder, Waardenburg syndrome is passed down from parent to child much like hair color, blood type, or other physical traits. A child receives genetic material from each parent. Because Waardenburg syndrome is a dominant condition, a child usually inherits the syndrome from just one parent who has the malfunctioning WS gene. Actually, there is a 50/50 chance that a child of an individual with WS will also have the syndrome. In most cases, Waardenburg syndrome is transmitted as an autosomal dominant trait.

Waardenburg syndrome type I (WS1) is associated with sideways displacement of the inner angles of the eyes, and is known to be caused by alterations (mutations) of different genes. Waardenburg syndrome type III (WS3) is characterized by facial, eye (ocular) and hearing (auditory) abnormalities. In addition, there can be distinctive malformations of the arms and hands (upper limbs).

 

Read more articles on Waardenburg syndrome.

 

 

Loading...
Is it Helpful Article?YES11122 Views 0 Comment
I have read the Privacy Policy and the Terms and Conditions. I provide my consent for my data to be processed for the purposes as described and receive communications for service related information.
This website uses cookie or similar technologies, to enhance your browsing experience and provide personalised recommendations. By continuing to use our website, you agree to our Privacy Policy and Cookie Policy. OK