Wolf-hirschhorn Syndrome

Description

Wolf-Hirschhorn syndrome (WHS) is a developmental disorder characterized by typical craniofacial features, prenatal and postnatal growth impairment, intellectual disability, severe delayed psychomotor development, seizures, and hypotonia.

Clinical Features

Top most frequent phenotypes and symptoms related to Wolf-hirschhorn Syndrome

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Hypertelorism
  • Nystagmus
  • Failure to thrive
  • Micrognathia

And another 75 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available WOLF-HIRSCHHORN SYNDROME have a estimated birth prevalence of 2 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Wolf-hirschhorn Syndrome Is also known as distal deletion 4p, distal monosomy 4p, telomeric deletion 4p, 4p- syndrome.

Researches and researchers

Doctors, researchs, and experts related to Wolf-hirschhorn Syndrome extracted from public data.

Wolf-hirschhorn Syndrome Experts map



Current Researchs and researchers

  • CANTOBLANCO — Dr César COBALEDA HERNÁNDEZ

    Investigator of research project

    • Institution/s:
      — CBMSO - Centro de Biología Molecular Severo Ochoa
    • Research area/topic::

      Contribution of Epigenetic Alterations to Wolf-Hirschhorn Syndrome


  • BRIGHTON — Pr Mark O'DRISCOLL

    Investigator of research project

    • Institution/s:
      — Genome Damage and Stability Centre (GDSC), University of Sussex
    • Research area/topic::

      Characterising the functional consequences of genomic disorder associated gene copy number variation (CNV) on cell cycle checkpoint proficiency, DNA repair, genomic instability and signal transduction including its implications in 1q21.1 CNV, Wolf-Hirschhorn syndrome and 4p16.3 dup, 2p15p16 del, 11q23qter CNV, 3q29 del and 16p11.2 CNV



Mendelian

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Wolf-hirschhorn Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Single gene testing NELFA.

By CeGaT GmbH (Germany).

NELFA
Specificity
100 %
Genes
34 %
NELFA.

By Fulgent Genetics Fulgent Genetics (United States).

NELFA
Specificity
100 %
Genes
34 %
Wolf-Hirschhorn syndrome.

By Cytogenetics Laboratory SUNY Upstate Medical University (United States).

NSD2
Specificity
100 %
Genes
34 %
Single gene testing WHSC1.

By CeGaT GmbH (Germany).

NSD2
Specificity
100 %
Genes
34 %
WHSC1.

By Fulgent Genetics Fulgent Genetics (United States).

NSD2
Specificity
100 %
Genes
34 %
Focus::MCL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. (United States).

SALL3, SI, SMARCA4, BTK, TLR2, TP53, TRAF2, NSD2, XPO1, KMT2C, CCND1, UBR5, CD79B, POT1, CDKN2A, SOCS1, COL16A1, FAT4, CTNNA2, TET2 , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
34 %
Wolf-Hirschhorn syndrome.

By Bioarray (Spain).

NSD2
Specificity
100 %
Genes
34 %
FoundationOne® Heme.

By Foundation Medicine, Inc. (United States).

BCL6, BCL7A, ROS1, RUNX1, BLM, SDHA, SDHB, SDHC, SDHD, SF3B1, SRSF2, SGK1, FOXL2, BRAF, BRCA1, BRCA2, SMARCA1, SMARCA4, SMARCB1, ARID1A , (...)

View the complete list with 374 more genes
Specificity
1 %
Genes
34 %

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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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