Coffin-siris Syndrome

Description

Coffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.

Clinical Features

Top most frequent phenotypes and symptoms related to Coffin-siris Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Nystagmus
  • Strabismus
  • Muscular hypotonia

And another 48 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.

Researches and researchers

Doctors, researchs, and experts related to Coffin-siris Syndrome extracted from public data.

Coffin-siris 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



Mendelian

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Coffin-siris 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
13 %
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
34 %
Genes
88 %
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
29 %
Genes
75 %
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
3 %
Genes
63 %
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
55 %
Genes
75 %
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
55 %
Genes
75 %
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
28 %
Genes
75 %
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
13 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEUTROPENIA, SEVERE CONGENITAL, 6, AUTOSOMAL RECESSIVE; SCN6 SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME; SSMS PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC; EPPK HYPOMAGNESEMIA 2, RENAL; HOMG2

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