Waardenburg Syndrome, Type 4b; Ws4b

Description

Waardenburg syndrome type 4 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the eye, deafness, and Hirschsprung disease (review by Read and Newton, 1997). WS type 4B is caused by mutation in the EDN3 gene (OMIM ). WS type 4 is genetically heterogeneous (see WS4A; {277580}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS2 (OMIM ), and WS3 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Waardenburg Syndrome, Type 4b; Ws4b

  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Intrauterine growth retardation
  • Telecanthus
  • Microtia
  • Bilateral sensorineural hearing impairment
  • Aganglionic megacolon
  • Hypopigmented skin patches
  • Premature graying of hair

And another 7 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Waardenburg Syndrome, Type 4b; Ws4b Is also known as waardenburg syndrome, type ivb, waardenburg syndrome, type 4b, with hirschsprung disease.

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 4b; Ws4b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hearing Loss Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)

View the complete list with 149 more genes
Specificity
1 %
Genes
100 %
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 %
Comprehensive Pulmonary Panel.

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

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Waardenburg syndrome, type 4b.

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

EDN3
Specificity
100 %
Genes
100 %
Waardenburg Syndrome - EDN3 Sequencing.

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

EDN3
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 %
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 %
Central Hypoventilation Syndrome Panel (6 Genes).

By Laboratory for Molecular Medicine Partners HealthCare Personalized Medicine (United States).

BDNF, EDN3, GDNF, ASCL1, PHOX2B, RET
Specificity
17 %
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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