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).
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.
Types I and II are the most common forms of Waardenburg syndrome, while types III and IV are rare.read more
Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes cause Waardenburg syndrome.read more