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Description

Waardenburg syndrome is a group of genetic conditions that tin 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 nativity (built). People with this condition often have very pale blue optics or different colored eyes, such as ane bluish heart and one chocolate-brown eye. Sometimes one heart has segments of two dissimilar colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family.

There are four recognized types of Waardenburg syndrome, which are distinguished by their physical characteristics and sometimes by their genetic cause. Types I and Two have very like features, although people with blazon I almost e'er take eyes that appear widely spaced and people with type II do non. In addition, hearing loss occurs more often in people with type Two than in those with type I. Type 3 (sometimes called Klein-Waardenburg syndrome) includes abnormalities of the arms and easily in improver to hearing loss and changes in pigmentation. Type Four (also known as Waardenburg-Shah syndrome) has signs and symptoms of both Waardenburg syndrome and Hirschsprung disease, an intestinal disorder that causes severe constipation or blockage of the intestine.

Frequency

Waardenburg syndrome affects an estimated 1 in 40,000 people. It accounts for ii to 5 percentage of all cases of congenital hearing loss. Types I and II are the most mutual forms of Waardenburg syndrome, while types III and IV are rare.

Causes

Mutations in the EDN3, EDNRB, MITF, PAX3, SNAI2, and SOX10 genes tin can crusade Waardenburg syndrome. These genes are involved in the formation and development of several types of cells, including pigment-producing cells chosen melanocytes. Melanocytes brand a pigment called melanin, which contributes to pare, pilus, and eye color and plays an essential role in the normal function of the inner ear. Mutations in whatsoever of these genes disrupt the normal development of melanocytes, leading to aberrant pigmentation of the peel, hair, and eyes and issues with hearing.

Waardenburg syndrome types I and Iii are acquired by mutations in the PAX3 gene. Mutations in the MITF or SNAI2 gene can cause Waardenburg syndrome type II.

Mutations in the SOX10, EDN3, or EDNRB gene can crusade Waardenburg syndrome type Iv. In addition to melanocyte development, these genes are important for the development of nerve cells in the large intestine. Mutations in ane of these genes event in hearing loss, changes in pigmentation, and intestinal issues related to Hirschsprung disease.

In some cases, the genetic crusade of Waardenburg syndrome has not been identified.

Inheritance

Waardenburg syndrome is commonly inherited in an autosomal ascendant blueprint, which means 1 re-create of the altered cistron in each cell is sufficient to cause the disorder. In nigh cases, an affected person has one parent with the condition. A small percent of cases result from new mutations in the cistron; these cases occur in people with no history of the disorder in their family.

Some cases of Waardenburg syndrome type II and type IV announced to have an autosomal recessive design of inheritance, which ways both copies of the gene in each cell have mutations. Most often, the parents of an private with an autosomal recessive condition each acquit i copy of the mutated gene, but exercise not show signs and symptoms of the condition.

Other Names for This Status

• Waardenburg'south syndrome

Additional Information & Resource

Genetic Testing Information

Genetic and Rare Diseases Information Heart

Inquiry Studies from ClinicalTrials.gov

• ClinicalTrials.gov

Itemize of Genes and Diseases from OMIM

• WAARDENBURG SYNDROME, TYPE 1
• WAARDENBURG SYNDROME, TYPE 2A
• WAARDENBURG SYNDROME, Blazon 2B
• WAARDENBURG SYNDROME, TYPE 2C
• WAARDENBURG SYNDROME, Blazon 2D
• WAARDENBURG SYNDROME, Blazon 2E
• WAARDENBURG SYNDROME, Blazon 3
• WAARDENBURG SYNDROME, Type 4A
• WAARDENBURG SYNDROME, Blazon 4B
• WAARDENBURG SYNDROME, Type 4C

Scientific Articles on PubMed

• PubMed

References

• Milunsky JM. Waardenburg Syndrome Type I. 2001 Jul thirty [updated 2017 May 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Mirzaa GM, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Academy of Washington, Seattle; 1993-2022. Bachelor from http://www.ncbi.nlm.nih.gov/books/NBK1531/ Citation on PubMed
• Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol. 2003 Sep;112(9 Pt 1):817-20. Review. Citation on PubMed
• Newton VE. Clinical features of the Waardenburg syndromes. Adv Otorhinolaryngol. 2002;61:201-8. Review. Citation on PubMed
• Pardono E, van Bever Y, van den Ende J, Havrenne PC, Iughetti P, Maestrelli SR, Costa F O, Richieri-Costa A, Frota-Pessoa O, Otto PA. Waardenburg syndrome: clinical differentiation between types I and 2. Am J Med Genet A. 2003 Mar 15;117A(three):223-35. Citation on PubMed
• Pingault V, Ente D, Dastot-Le Moal F, Goossens G, Marlin S, Bondurand N. Review and update of mutations causing Waardenburg syndrome. Hum Mutat. 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. Review. Citation on PubMed
• Zaman A, Capper R, Baddoo W. Waardenburg syndrome: more mutual than y'all think! Clin Otolaryngol. 2015 February;40(1):44-eight. doi: 10.1111/coa.12312. Commendation on PubMed

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Source: https://medlineplus.gov/genetics/condition/waardenburg-syndrome/

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