Waardenburg syndrome (WS) is a disorder characterized by varying degrees of deafness and minor defects in structures arising from neural crest, including. RELATO DE CASO CASE REPORT. Síndrome de Waardenburg tipo I: relato de caso. Waardenburg syndrome type I: case report. Patricia Capua Vieira da. 12 Dec English: Waardenburg’s Syndrome, – Klein-Waardenburg Syndrome Español: Síndrome de Waardenburg, – Sindrome de Waardenburg.

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The novel Shock by Robin Cook mentions a character with the disorder.

Waardenburg syndrome

Skin color Skin whitening Tanning Sunless. These mutations may be inherited in an autosomal dominant pattern or may be de novo.

Clinical description Clinical manifestations vary within and between families. Other search option s Alphabetical list.

Sindrome de waardenburg Society of Human Genetics. His eyes are different colors and he has a white streak sindrome de waardenburg his hair. Most often, the parents of an individual with an autosomal waadrenburg condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.

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WS is classified into four clinical and genetic phenotypes. In addition to melanocyte development, these genes are important for the development of nerve sindrome de waardenburg in the large intestine.

Also “Blacklight Blue” Chapter Affected individuals may have higher risk of: Worldwide distribution of Waardenburg syndrome. Summary and related texts. Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease. Deletions, frame shifts, splice site, and nonsense mutations, as well as whole gene deletions, have been reported.

From Wikipedia, the free encyclopedia. Facial features of Waardenburg syndrome.

Indian Journal of Human Genetics. In other projects Wikimedia Commons. A small percentage of cases result from new mutations in the gene ; these cases occur in people with no history of the disorder in their family. Print this section Print the entire contents of Print the entire contents of article.

Review sindrome de waardenburg update of mutations causing Waardenburg syndrome. Waardenburg syndrome type3 WS3 and type 4 WS4; see these terms are sindrome de waardenburg, with only a few cases of WS3 described worldwide so far.

D ICD – Swiss ophthalmologist David Klein also sindromw contributions towards the understanding of the syndrome. It accounts for 2 to 5 percent of all cases of congenital hearing loss. Waardenburg syndrome is a group sindrome de waardenburg genetic conditions that can cause hearing loss and changes in coloring pigmentation of the hair, skin, and eyes. Waarednburg albinism 1 Oculocutaneous albinism Hermansky—Pudlak syndrome Waardenburg syndrome.

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The actual prevalence, however, may be as high as 1. The material is in no way intended to replace professional medical sindrome de waardenburg by a sindrome de waardenburg specialist and should not be used as a basis for diagnosis or treatment.

Genetics of Waardenburg Syndrome. Summary and related texts. Can You Identify and Treat Hyperkalemia? Services on Demand Journal.

Orphanet: Waardenburg syndrome

Waardenburg syndrome type I: Holt—Oram syndrome Li—Fraumeni syndrome Ulnar—mammary syndrome. Sindrome de waardenburg using this site, you agree to the Terms of Use and Privacy Policy. Albinism Oculocutaneous albinism Ocular albinism. For all other comments, please send your remarks via re us.