Waardenburg syndrome (WS) is a group of genetic conditions characterized by varying degrees of hearing loss and differences in the coloring (pigmentation) of the eyes, hair, and skin. Signs and symptoms can vary both within and between families. Common features include congenital sensorineural deafness; pale blue eyes, different colored eyes, or two colors within one eye; a white forelock (hair just above the forehead); or early graying of scalp hair before age 30. Various other features may also be present. WS is classified into 4 subtypes (types 1, 2, 3 and 4) based on whether certain features are present and the genetic cause. Mutations in at least 6 different genes are known to cause WS, and it may be inherited in an autosomal dominant (most commonly) or autosomal recessive manner. Treatment depends on the specific symptoms present.
Last updated: 2/10/2016
What is Waardenburg syndrome type 2?
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 WS1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes).Sensorineural hearing loss occurs in the majority of people with WS2, and heterochromia iridis (differences in eye coloring) occurs in about half. WS2 may be caused by changes (mutations) in any of several genes, but in many cases the genetic cause is unknown. While inheritance is usually autosomal dominant, sometimes WS2 is not inherited, occurring for the first time in someone with no family history of the condition. Treatment may include the use of hearing aids and/or cosmetic products (if desired) for skin hypopigmentation.
Waardenburg syndrome type 2 can be further divided into subtypes based on the genetic cause, when it can be identified.
Last updated: 6/28/2016
What are the signs and symptoms of Waardenburg syndrome type 2?
Waardenburg syndrome type 2 (WS2) is characterized by varying degrees of deafness and pigmentation (coloring) anomalies of the eyes, hair and skin, but without dystopia canthorum (lateral displacement of the inner canthi of the eyes). Sensorineural hearing loss is present in the majority of people with WS2 (almost 80%), and heterochromia iridum (differences in eye coloring) is present in almost half. In some people, particularly those with WS type 2E, signs of Kallmann syndrome are present.
Last updated: 6/28/2016
Is the hearing loss in individuals with Waardenburg syndrome type 2 likely to be progressive?
After an extensive search of the medical literature, we were only able to find one journal articlet hat directly addresses this topic. According to this article, it appears as if, in contrast to Waardenburg syndrome type 1 in which the hearing loss is typically non-progressive, there is some evidence that the hearing loss in Waardenburg syndrome type 2 is progressive. Since the information on this topic is quite limited and somewhat dated, we strongly recommend that you discuss your concerns with your healthcare provider.
Last updated: 10/19/2011
We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please
Hildesheimer M, Maayan Z, Muchnik C, Rubinstein M, Goodman RM. Auditory and vestibular findings in Waardenburg's type II syndrome. J Laryngol Otol. December 1989; http://www.ncbi.nlm.nih.gov/pubmed/2614228. Accessed 10/19/2011.