Weill-marchesani Syndrome 1; Wms1

Description

Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma, and, occasionally, heart defects (summary by Dagoneau et al., 2004). Genetic Heterogeneity of Weill-Marchesani SyndromeA phenotypically similar, autosomal dominant form of WMS (WMS2 ) is caused by mutation in the FBN1 gene (OMIM ) on chromosome 15q21. Autosomal recessive WMS3 (OMIM ) is caused by mutation in the LTBP2 gene (OMIM ) on chromosome 14q24. Autosomal recessive WMS4 (OMIM ) is caused by mutation in the ADAMTS17 gene (OMIM ) on chromosome 15q24.

Clinical Features

Top most frequent phenotypes and symptoms related to Weill-marchesani Syndrome 1; Wms1

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cataract
  • Depressed nasal bridge
  • Brachydactyly
  • Myopia
  • Ventricular septal defect
  • Blindness
  • Intellectual disability, mild

And another 30 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

Weill-marchesani Syndrome 1; Wms1 Is also known as weill-marchesani syndrome, autosomal recessive, mesodermal dysmorphodystrophy, congenital, spherophakia-brachymorphia syndrome.

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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Weill-marchesani Syndrome 1; Wms1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
2 %
Genes
100 %
ADAMTS10. Complete sequencing.

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

ADAMTS10
Specificity
100 %
Genes
100 %
Weill-Marchesani Syndrome 1 (sequence analysis of ADAMTS10 gene).

By CGC Genetics (Portugal).

ADAMTS10
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 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 %
Weill-Marchesani syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

ADAMTS10, ADAMTS17, FBN1, LTBP2
Specificity
25 %
Genes
100 %
Weill-Marchesani syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

ADAMTS10, ADAMTS17, FBN1, LTBP2
Specificity
25 %
Genes
100 %
Ectopia Lentis.

By MGZ Medical Genetics Center (Germany).

ADAMTS10, CBS, ADAMTS17, ADAMTSL4, COL11A1, COL18A1, VCAN, FBN1, ASPH
Specificity
12 %
Genes
100 %

We have 24 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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