Table of ContentsView AllTable of ContentsTypes & SymptomsDiagnosisTreatmentGenetic Counseling
Table of ContentsView All
View All
Table of Contents
Types & Symptoms
Diagnosis
Treatment
Genetic Counseling
Waardenburg syndrome affects both males and females and people of all ethnic backgrounds.This disorder is believed to account for 2%-5% of all cases of congenital deafness. It is estimated to occur in 1 of 40,000 individuals.
This article discusses the types of Waardenburg syndrome, as well as its symptoms, diagnosis, and treatment.
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Waardenburg Syndrome Types and Symptoms
Waardenburg syndrome is divided into four types, based on the physical manifestations of the condition. The types are defined as follows:
Major criteria include:
Minor criteria:
How Is Waardenburg Syndrome Diagnosed?
Babies born with Waardenburg syndrome may have hearing loss and may noticeably display the characteristic hair and skin features. However, if the symptoms are mild, Waardenburg syndrome may go undiagnosed unless another family member is diagnosed and all family members are examined.
Formal hearing tests can be used to assess hearing loss. If gastrointestinal symptoms are present, imaging tests (such as abdominal CT) or interventional tests (such asendoscopy) may be necessary.
Treatment for Waardenburg Syndrome
Even within the same family, Waardenburg syndrome can affect people differently. Some individuals might not need treatment while others may need:
Waardenburg syndrome does not usually cause cognitive (thinking and learning) problems or mood or psychiatric effects.
In types 1 and 2, Waardenburg syndrome is inherited in an autosomal dominant pattern, which means that an affected individual has a 50% chance of having an affected child in each pregnancy. Inheritance of types 3 and 4 may follow a more complex pattern.
Several genes have been identified in association with this condition, including mutations in the EDN3, EDNRB, MITF, PAX3, and SOX10 genes.
As symptoms can vary, there is no way to predict whether an affected child will have milder or more severe symptoms than his/her parent but genetic counseling can help assess the risk of passing Waardenburg syndrome on to a child.
Summary
Waardenburg syndrome is a rare genetic disease that can cause features like albinism, deafness, and dystopia canthorum. Symptoms can be mild or more severe. Because Waardenburg syndrome affects people differently treatment is focused on each individual’s symptoms. Genetic counseling can help assess the risk of passing Waardenburg syndrome on to a child.
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6 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Ahmed N, Mui R, Masood S.Waardenburg Syndrome.StatPearls [Internet]NORD.Waardenburg Syndrome.National Organization for Rare Disorders.Waardenburg Syndrome.NIH National Center for Advancing Translational Sciences.Waardenburg Syndrome.Chandra Mohan SLN.Case of Waardenburg Shah syndrome in a family with review of literature.J Otol. 2018;13(3):105–110. doi:10.1016/j.joto.2018.05.005NIH U.S. National Library of Medicine.Waardenburg Syndrome.Additional ReadingDourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK.Waardenburg syndrome.Int J Dermatol. 1999;38(9):656-63. doi:10.1046/j.1365-4362.1999.00750.x
6 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Ahmed N, Mui R, Masood S.Waardenburg Syndrome.StatPearls [Internet]NORD.Waardenburg Syndrome.National Organization for Rare Disorders.Waardenburg Syndrome.NIH National Center for Advancing Translational Sciences.Waardenburg Syndrome.Chandra Mohan SLN.Case of Waardenburg Shah syndrome in a family with review of literature.J Otol. 2018;13(3):105–110. doi:10.1016/j.joto.2018.05.005NIH U.S. National Library of Medicine.Waardenburg Syndrome.Additional ReadingDourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK.Waardenburg syndrome.Int J Dermatol. 1999;38(9):656-63. doi:10.1046/j.1365-4362.1999.00750.x
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Ahmed N, Mui R, Masood S.Waardenburg Syndrome.StatPearls [Internet]NORD.Waardenburg Syndrome.National Organization for Rare Disorders.Waardenburg Syndrome.NIH National Center for Advancing Translational Sciences.Waardenburg Syndrome.Chandra Mohan SLN.Case of Waardenburg Shah syndrome in a family with review of literature.J Otol. 2018;13(3):105–110. doi:10.1016/j.joto.2018.05.005NIH U.S. National Library of Medicine.Waardenburg Syndrome.
Ahmed N, Mui R, Masood S.Waardenburg Syndrome.StatPearls [Internet]
NORD.Waardenburg Syndrome.
National Organization for Rare Disorders.Waardenburg Syndrome.
NIH National Center for Advancing Translational Sciences.Waardenburg Syndrome.
Chandra Mohan SLN.Case of Waardenburg Shah syndrome in a family with review of literature.J Otol. 2018;13(3):105–110. doi:10.1016/j.joto.2018.05.005
NIH U.S. National Library of Medicine.Waardenburg Syndrome.
Dourmishev AL, Dourmishev LA, Schwartz RA, Janniger CK.Waardenburg syndrome.Int J Dermatol. 1999;38(9):656-63. doi:10.1046/j.1365-4362.1999.00750.x
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