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1. en.wikipedia.org › wiki › Waardenburg_syndromeWaardenburg syndrome - Wikipedia

   en.wikipedia.org › wiki › Waardenburg_syndrome

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   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.

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   What is Waardenburg syndrome?

   • 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.

   Waardenburg syndrome - Wikipedia

   en.wikipedia.org/wiki/Waardenburg_syndrome

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   What are the symptoms of Waardenburg syndrome?

   • The two features consistent across all types of Waardenburg syndrome are some degree of congenital sensorineural hearing loss and some degree of pigmentation deficiencies, most consistently in the eyes.

   Waardenburg syndrome - Wikipedia

   en.wikipedia.org/wiki/Waardenburg_syndrome

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   How does Waardenburg syndrome affect your eyes?

   • Hearing loss is present at birth (congenital). Waardenburg syndrome causes changes to your hair, skin and eye color (pigmentation). These changes include: Pale, blue eye color. Eyes that are two different colors. Segments of your iris (the part of your eyes with color) are two different colors (heterochromia irides).

   Waardenburg Syndrome: Symptoms & Causes - Cleveland Clinic

   my.clevelandclinic.org/health/diseases/24012-waardenburg-syndrome

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   Why is Waardenburg disease a rare disease?

   • It is named after Dutch ophthalmologist and geneticist Petrus Johannes Waardenburg, who described it in 1951. During embryogenesis, there is an abnormal distribution of melanocytes, which results in patchy areas of depigmentation. It is a rare disease, caused by loss of pigmentary cells in eyes, skin, stria vascularis of the cochlea, and hair.

   Waardenburg Syndrome - StatPearls - NCBI Bookshelf

   www.ncbi.nlm.nih.gov/books/NBK560879/

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3. rarediseases.org › rare-diseases › waardenburg-syndromeWaardenburg Syndrome - Symptoms, Causes, Treatment | NORD

   rarediseases.org › rare-diseases › waardenburg-syndrome

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   May 21, 2015 · Disease Overview. Waardenburg syndrome is a genetic disorder that may be evident at birth (congenital). The range and severity of associated symptoms and findings may vary greatly from case to case. However, primary features often include distinctive facial abnormalities; unusually diminished coloration (pigmentation) of the hair, the skin, and ...

4. www.ncbi.nlm.nih.gov › books › NBK560879Waardenburg Syndrome - StatPearls - NCBI Bookshelf

   www.ncbi.nlm.nih.gov › books › NBK560879

   Jul 4, 2023 · Waardenburg syndrome is a group of genetic conditions inherited in an autosomal dominant fashion. During embryogenesis, there is an abnormal distribution of melanocytes, which results in patchy areas of depigmentation.

   • Author: Naila Ahmed jan, Ryan K. Mui, Sadia Masood

   • Published: 2023/07/04

5. rarediseases.info.nih.gov › waardenburg-syndromeWaardenburg syndrome - About the Disease - Genetic and Rare ...

   rarediseases.info.nih.gov › waardenburg-syndrome

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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. Various other features may also be present.

6. my.clevelandclinic.org › health › diseasesWaardenburg Syndrome: Symptoms & Causes - Cleveland Clinic

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   Aug 15, 2022 · Waardenburg syndrome is a genetic condition that affects the coloring (pigmentation) of your skin, hair and eyes. This condition can also cause hearing loss. In rare cases, Waardenburg syndrome can cause constipation or intestinal blockages. Treatment is available to alleviate symptoms but isn’t necessary for all types of the condition.

7. www.nature.com › articles › s41434/021/00240-2Genetic insights, disease mechanisms, and biological ... - Nature

   www.nature.com › articles › s41434/021/00240-2

   Feb 25, 2021 · Waardenburg syndrome (WS) is the most common syndromic genetic hearing loss (GHL). WS is characterized by sensory impairment of the auditory systems, as well as variable presentation of...