Van Der Woude Syndrome 2; Vws2

Description

Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome.For a discussion of genetic heterogeneity of van der Woude syndrome, see VWS1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Van Der Woude Syndrome 2; Vws2

  • Cleft palate
  • Cleft lip
  • Cleft upper lip
  • Cerebral palsy
  • Anodontia

Incidence and onset information

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

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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Van Der Woude Syndrome 2; Vws2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Van der Woude syndrome 2 (sequence analysis of GRHL3 gene).

By CGC Genetics (Portugal).

GRHL3
Specificity
100 %
Genes
100 %
Van der Woude Syndrome (VWS) via GRHL3 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GRHL3
Specificity
100 %
Genes
100 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Van der Woude syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

GRHL3, IRF6
Specificity
50 %
Genes
100 %
Van der Woude syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

GRHL3, IRF6
Specificity
50 %
Genes
100 %
Van der Woude syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

GRHL3, IRF6
Specificity
50 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

MESH OMIM Rare Disease Search Engine

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