Waardenburg syndrome type 2
Other Names for this Disease
- WS 2
- WS type 2
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Your QuestionIs hearing loss in people with Waardenburg syndrome type II likely to be progressive?
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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
Waardenburg syndrome type 2 is an inherited condition that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. About 50 percent of those with Waardenburg syndrome type 2 have a hearing impairment or are deaf. Type 2 is one the most common forms of Waardenburg syndrome, along with type 1. Waardenburg syndrome type 2 may be caused by mutations in the MITF and SNAI2 genes. This condition is usually inherited in an autosomal dominant fashion, but can sometimes be inherited as an autosomal recessive trait.
Last updated: 12/9/2011
In general, Waardenburg syndrome is characterized by varying degrees of hearing loss and changes in skin and hair color (pigmentation). Those with Waardenburg syndrome type 2, do not have a wide space between the inner corners of their eyes or other facial abnormalities. Most have a hearing impairment or are deaf and also have heterochromia of the iris (two different colored eyes). Other features of Waardenburg syndrome, including white forelock, premature graying of the hair, and irregular depigmentation of the skin, are less common in this type.
Last updated: 10/19/2011
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
- Véronique Pingault. Waardenburg syndrome. Orphanet. November, 2015; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3440.
- Waardenburg syndrome. Genetics Home Reference (GHR). April 2006; http://ghr.nlm.nih.gov/condition/waardenburg-syndrome. Accessed 10/19/2011.
- Waardenburg Syndrome. National Institute on Deafness and Communication Disorders (NIDCD). June 2010; http://www.nidcd.nih.gov/health/hearing/waard.asp. Accessed 10/19/2011.
- Faivre L & Vekemans M. Waardenburg syndrome type II. Orphanet. April 2005; http://www.orpha.net/data/patho/GB/uk-WS2(05).pdf. Accessed 10/19/2011.
- Milunsky JM. Waardenburg Syndrome Type I. GeneReviews. August 2009; http://www.ncbi.nlm.nih.gov/books/NBK1531/. Accessed 10/19/2011.
- 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.