Waardenburg Syndrome, Type 2a; Ws2a

Description

Waardenburg syndrome type 2 is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1 ) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3 ) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4 ), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (OMIM ) has been mapped to chromosome 1p, WS2C (OMIM ) has been mapped to chromosome 8p23, WS2D (OMIM ) is caused by mutation in the SNAI2 gene (OMIM ) on chromosome 8q11, and WS2E (OMIM ) is caused by mutation in the SOX10 gene (OMIM ) on chromosome 22q13.

Clinical Features

Top most frequent phenotypes and symptoms related to Waardenburg Syndrome, Type 2a; Ws2a

  • Hearing impairment
  • Sensorineural hearing impairment
  • Wide nasal bridge
  • Telecanthus
  • Cleft lip
  • Synophrys
  • Abnormality of skin pigmentation
  • Hypopigmentation of the skin
  • Underdeveloped nasal alae
  • Aganglionic megacolon

And another 10 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Waardenburg Syndrome, Type 2a; Ws2a Is also known as waardenburg syndrome without dystopia canthorum, ws2, waardenburg syndrome, type iia.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Waardenburg Syndrome, Type 2a; Ws2a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Hearing Loss Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SIX1, SNAI2, SMPX, SOX10, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN, CDH23, CACNA1D, ACTG1, PCDH15, USH1G, WHRN , (...)

View the complete list with 70 more genes
Specificity
2 %
Genes
100 %
Waardenburg Syndrome Type 2.

By Center for Human Genetics, Inc (United States).

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome Type 2A - MITF Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

MITF
Specificity
100 %
Genes
100 %
Waardenburg Syndrome, Type 2 - MITF Gene.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

MITF
Specificity
100 %
Genes
100 %
OtoSCOPE.

By Molecular Otolaryngology and Renal Research Laboratories University of Iowa Hospital and Clinics (United States).

ROR1, SIX1, SIX5, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TWNK, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, TSPEAR, WFS1, ESPN , (...)

View the complete list with 130 more genes
Specificity
1 %
Genes
100 %
Inherited Cancer Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

BLM, SDHB, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, TSC1, TSC2, VHL, XRCC2, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, BRIP1, SDHAF2, TMEM127 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
100 %
Hearing Loss Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RPS6KA3, SALL1, SEMA3E, SIX1, SIX5, SLC19A2, SNAI2, SMPX, SOX10, BTD, TCOF1, TECTA, TIMM8A, TJP2, TMPRSS3, USH1C, USH2A, CLRN1, WFS1, ESPN , (...)

View the complete list with 100 more genes
Specificity
1 %
Genes
100 %
VistaSeq Renal Cell Cancer Panel.

By Molecular Diagnostic Laboratory University of Alberta (Canada).

SDHB, SDHC, SDHD, EPCAM, TP53, TSC1, TSC2, VHL, WT1, FLCN, FH, GPC3, MET, MITF, MLH1, MSH2, MSH6, PMS2, PTEN
Specificity
6 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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