Cognitive Impairment-coarse Facies-heart Defects-obesity-pulmonary Involvement-short Stature-skeletal Dysplasia Syndrome

Clinical Features

Top most frequent phenotypes and symptoms related to Cognitive Impairment-coarse Facies-heart Defects-obesity-pulmonary Involvement-short Stature-skeletal Dysplasia Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Abnormal facial shape
  • Cataract
  • Cryptorchidism
  • Cognitive impairment
  • Brachydactyly

And another 25 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

Cognitive Impairment-coarse Facies-heart Defects-obesity-pulmonary Involvement-short Stature-skeletal Dysplasia Syndrome Is also known as chops syndrome, cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia.

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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Cognitive Impairment-coarse Facies-heart Defects-obesity-pulmonary Involvement-short Stature-skeletal Dysplasia Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Monogenic Obesity Sequencing Panel.

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

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
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
5 %
Genes
100 %
Monogenic Obesity Deletion/Duplication Panel.

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

SDCCAG8, SIM1, UCP3, ARL6, TRIM32, AFF4, PHF6, SETD2, BBS7, TTC8, IFT74, VPS13B, CUL4B, PRMT7, BBS10, BBS12, WDPCP, CEP290, KIDINS220, BBS9 , (...)

View the complete list with 18 more genes
Specificity
3 %
Genes
100 %
Cornelia de Lange Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SMC1A, HDAC8, AFF4, ANKRD11, SMC3, NIPBL, RAD21
Specificity
15 %
Genes
100 %
CHOPS Syndrome via AFF4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

AFF4
Specificity
100 %
Genes
100 %
Cornelia de Lange Syndrome and Cornelia de Lange Syndrome-Related Disorders Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, TAF1, TAF6, MED12, HDAC8, CTCF, SRCAP, AFF4, ARID1B, PHF6, DOCK6, CHD7, WDR26, ANKRD11, CREBBP , (...)

View the complete list with 11 more genes
Specificity
4 %
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 %
Cornelia de Lange syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SMC1A, HDAC8, AFF4, ANKRD11, SMC3, NIPBL, RAD21
Specificity
15 %
Genes
100 %

We have 7 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

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