Weill-marchesani Syndrome 3; Wms3

Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.

Clinical Features

Phenotypes and symptoms related to Weill-marchesani Syndrome 3; Wms3

  • Short stature
  • Brachydactyly
  • Myopia
  • Joint stiffness
  • Pulmonic stenosis
  • Aortic valve stenosis
  • Ectopia lentis
  • Increased intraocular pressure
  • Shallow anterior chamber
  • Microspherophakia

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.

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.

Weill-marchesani Syndrome 3; Wms3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Optic Atrophy and Early Glaucoma Panel.

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

SLC4A4, SPG7, TBK1, ACO2, BEST1, WFS1, ACVR1, OPTN, ASB10, MFRP, CANT1, SBF2, COL4A1, CISD2, TMEM126A, MTPAP, CYP1B1, C12orf65, SH3PXD2B, FOXC1 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
LTBP2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LTBP2
Specificity
100 %
Genes
100 %
MYOC, CYP1B1, LTBP2, OPTN. NextGeneDx.Complete sequencing by NGS.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

OPTN, CYP1B1, LTBP2, MYOC
Specificity
25 %
Genes
100 %
Primary Congenital Glaucoma (sequence analysis of LTBP2 gene).

By CGC Genetics (Portugal).

LTBP2
Specificity
100 %
Genes
100 %
Primary Congenital Glaucoma via LTBP2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

LTBP2
Specificity
100 %
Genes
100 %
Glaucoma Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC4A4, ATOH7, OPTN, MFRP, COL4A1, COL8A1, COL8A2, CYP1B1, SH3PXD2B, WDR36, FOXC1, LMX1B, LTBP2, MYOC, OPTC, PAX6, PITX2
Specificity
6 %
Genes
100 %
Comprehensive Cardiology Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RYR1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SCO2, SGCD, SGCG, BRAF, SLC25A4, SNTA1, SOS1, SREBF2, TAZ, TBX3, TBX5, TCAP, TGFB2, TGFB3 , (...)

View the complete list with 143 more genes
Specificity
1 %
Genes
100 %
Weill-Marchesani syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

ADAMTS10, ADAMTS17, FBN1, LTBP2
Specificity
25 %
Genes
100 %

You can get up to 36 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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