Waardenburg-shah Syndrome

Description

Waardenburg-Shah syndrome (WSS), also known as Waardenburg syndrome type 4 (WS4) is characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease (aganglionic megacolon).

Clinical Features

Top most frequent phenotypes and symptoms related to Waardenburg-shah Syndrome

  • Hearing impairment
  • Wide nasal bridge
  • Constipation
  • Abdominal pain
  • Telecanthus
  • Abnormality of the eye
  • Prominent nasal bridge
  • Synophrys
  • Underdeveloped nasal alae
  • Aganglionic megacolon

And another 13 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.)
No data available about the known clinical features onset.

Alternative names

Waardenburg-shah Syndrome Is also known as shah-waardenburg syndrome, waardenburg-hirschsprung syndrome, ws4, waardenburg syndrome type 4.

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-shah Syndrome 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
2 %
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
4 %
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
34 %
Waardenburg syndrome, type 4b.

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

EDN3
Specificity
100 %
Genes
34 %
Waardenburg Syndrome - EDN3 Sequencing.

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

EDN3
Specificity
100 %
Genes
34 %
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
2 %
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
3 %
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
34 %

We have 138 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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