Intellectual Disability-sparse Hair-brachydactyly Syndrome

Description

Intellectual disability-sparse hair-brachydactyly syndrome is a very rare condition of unknown etiology consisting of short stature, hypotrichosis, brachydactyly with cone-shaped epiphyses, epilepsy and severe mental delay. After the initial delineation of this syndrome by Nicolaides and Baraitser in 1993, only five more patients were published in the literature up to now.

Clinical Features

Top most frequent phenotypes and symptoms related to Intellectual Disability-sparse Hair-brachydactyly Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape

And another 90 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

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

Alternative names

Intellectual Disability-sparse Hair-brachydactyly Syndrome Is also known as sparse hair and mental retardation, nbs, nicolaides-baraitser syndrome.

Researches and researchers

Doctors, researchs, and experts related to Intellectual Disability-sparse Hair-brachydactyly Syndrome extracted from public data.

Intellectual Disability-sparse Hair-brachydactyly Syndrome Experts map



Current Researchs and researchers

  • DÜSSELDORF — Pr Dagmar WIECZOREK

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Universitätsklinikum Düsseldorf
      — Heinrich-Heine-Universität Düsseldorf
    • Research area/topic::

      CHROMATIN-Net: Intellectual disability (ID) and syndromic entities associated with mutations in the SWI/SNF complex


  • ERLANGEN — Pr André REIS

    Coordinator of expert centre - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of department

    • Institution/s:
      — Humangenetisches Institut am Universitätsklinikum Erlangen
    • Research area/topic::

      CHROMATIN-Net: Network on cognitive impairment disorders with defective chromatin (coordination)


  • ESSEN — Pr Bernhard HORSTHEMKE

    Coordinator of expert centre - Clinical expert - Clinical geneticist - Responsible for diagnostic tests - Investigator of research project - Coordinator of research network - Director of laboratory

    • Institution/s:
      — Universitätsklinikum Essen
      — Universitätsklinikum Essen
    • Research area/topic::

      CHROMATIN-Net: The nucleosome landscape of Coffin-Siris and Nicolaides-Baraitser syndrome patients with mutations in the SWI/SNF complex


  • MÜNCHEN — Dr Tim M. STROM

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Helmholtz Zentrum München
    • Research area/topic::

      CHROMATIN-Net: Whole Genome Sequencing and Analysis


  • AMSTERDAM — Pr R.C. [Raoul] HENNEKAM

    Clinical expert - Investigator of research project - Researcher

    • Institution/s:
      — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
      — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
      — UMCG - Universitair Medisch Centrum Groningen
    • Research area/topic::

      Causes of Nicolaides-Baraitser Syndrome


  • GRONINGEN — Pr R.C. [Raoul] HENNEKAM

    Clinical expert - Investigator of research project - Researcher

    • Institution/s:
      — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
      — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
      — UMCG - Universitair Medisch Centrum Groningen
    • Research area/topic::

      Causes of Nicolaides-Baraitser Syndrome


  • LONDON — Pr R.C. [Raoul] HENNEKAM

    Clinical expert - Investigator of research project - Researcher

    • Institution/s:
      — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
      — Emma Kinderziekenhuis, Amsterdam UMC, locatie AMC
      — UMCG - Universitair Medisch Centrum Groningen
    • Research area/topic::

      Causes of Nicolaides-Baraitser Syndrome



Mendelian

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Intellectual Disability-sparse Hair-brachydactyly Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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
50 %
Coffin-Siris Syndrome Panel.

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

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Cornelia de Lange Syndrome PLUS Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
Non-Specific Intellectual Disability Panel.

By Genetic Services Laboratory University of Chicago (United States).

RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)

View the complete list with 153 more genes
Specificity
1 %
Genes
50 %
Coffin-Siris syndrome Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
19 %
Genes
100 %
Coffin-Siris syndrome Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
19 %
Genes
100 %
Cornelia de Lange PLUS Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
AutismNext.

By Ambry Genetics (United States).

SCN2A, SLC6A8, SLC9A6, SMC1A, CDKL5, SYNGAP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3 , (...)

View the complete list with 28 more genes
Specificity
3 %
Genes
50 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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