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Summary. 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 type 1 and some other types of WS by the absence of dystopia canthorum (lateral displacement of the inner canthi of the eyes).
- Living With The Disease
The impacts of a rare disease diagnosis can be widespread,...
- Getting a Diagnosis
Diagnostic teams for Waardenburg syndrome type 2 may...
- Living With The Disease
- Hearing Loss
- Pigmentation Symptoms
- What Are The Types of Waardenburg Syndrome?
Some people diagnosed with Waardenburg syndrome may have moderate to severe hearing lossin one or both ears. Depending on the type, some people might not have their hearing affected. Hearing loss is present at birth (congenital).
Waardenburg syndrome causes changes to your hair, skin and eye color(pigmentation). These changes include: 1. Pale, blue eye color. 2. Eyes that are two different colors. 3. Segments of your iris(the part of your eyes with color) are two different colors (heterochromia irides). 4. Patch of white hair, usually above your forehead (forelock). 5. Hair...
There are four types of Waardenburg syndrome. Providers diagnose each type based on your symptoms. These include: 1. Type I:Wide-spaced eyes and a broad nasal bridge. 2. Type II: Moderate to severe hearing loss. 3. Type III (Klein-Waardenburg syndrome):Hearing loss, skin pigmentation changes and bone growth abnormalities of your hands and arms. 4. ...
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye ), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there ...
May 21, 2015 · Nobukuni Y, et al. Analyses of loss-of-function mutations of the MITF gene suggest that haploinsufficiency is a cause of Waardenburg syndrome type 2A. Am J Hum Genet. 1996;59:76-83. Tachibana M, et al. Ectopic expression of MITF, a gene for Waardenburg syndrome type 2, converts fibroblasts to cells with melanocyte characteristics.
Jul 4, 2023 · A complication of type 1 Waardenburg syndrome is blepharophimosis. Type 2 complications include sensorineural deafness (70%) Type 3 is associated with skeletal abnormalities, and the severe form presents with mental disability and microcephaly. Hirschsprung syndrome is the main complication of type 4 Waardenburg syndrome.
- Naila Ahmed jan, Ryan K. Mui, Sadia Masood
- 2023/07/04
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What is type 1 Waardenburg syndrome?
What causes Waardenburg syndrome type 2?
What are the different types of Waardenburg syndrome?
Description. Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital).
WS2 is genetically very heterogeneous and still much of the etiology of WS2 remains elusive. Mutations have been found in MITF (3p14-p13; subtype designated as WS2A), SNAI2 (8q11.21; WS2D), and SOX10 (22q13.1; WS2E) genes. Furthermore WS2 loci have been mapped to chromosome 1p21-p13.3 (subtype designated as WS2B) and to chromosome 8p23 ...
