Weaver Syndrome

Description

Weaver syndrome (WVS) is a rare, multisystem disorder characterized by tall stature, a typical facial appearance (hypertelorism, retrognathia) and variable intellectual disability. Additional features may include camptodactyly, soft doughy skin, umbilical hernia, and a low hoarse cry.

Clinical Features

Top most frequent phenotypes and symptoms related to Weaver Syndrome

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cryptorchidism
  • Spasticity
  • Macrocephaly
  • Downslanted palpebral fissures
  • Talipes equinovarus

And another 32 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Weaver Syndrome Is also known as camptodactyly-overgrowth-unusual facies 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.

Weaver Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
25 %
Syndromic Autism Panel.

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

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
25 %
NGS Overgrowth/Macrocephaly Panel.

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

MED12, NSD1, CDKN1C, PHF6, UPF3B, RNF135, CUL4B, DNMT3A, EZH2, GLI3, GPC3, NFIX, PTCH1, PTEN
Specificity
15 %
Genes
50 %
Sotos Syndrome.

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

NSD1
Specificity
100 %
Genes
25 %
Sotos Syndrome (NSD1).

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

NSD1
Specificity
100 %
Genes
25 %
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
2 %
Genes
50 %
Macrocephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

MED12, NSD1, PHF6, UPF3B, CUL4B, EZH2, GLI3, NFIX, PIK3CA, PTCH1, PTEN
Specificity
19 %
Genes
50 %
Sotos syndrome.

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

NSD1
Specificity
100 %
Genes
25 %

You can get up to 148 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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