Cohen-gibson Syndrome; Cogis

Description

Cohen-Gibson syndrome is an overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. Other features may include hypotonia, difficulty walking due to skeletal anomalies, and umbilical hernia (summary by Cooney et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Cohen-gibson Syndrome; Cogis

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cataract
  • Cryptorchidism

And another 70 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

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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Cohen-gibson Syndrome; Cogis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Weaver and Cohen-Gibson syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

EED, EZH2
Specificity
50 %
Genes
100 %
Overgrowth syndrome NGS panel.

By Connective Tissue Gene Tests (United States).

NSD1, SETD2, OFD1, DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, PDGFRB, PIGA
Specificity
10 %
Genes
100 %
Overgrowth syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

NSD1, SETD2, OFD1, DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, PDGFRB, PIGA
Specificity
10 %
Genes
100 %
Weaver and Cohen-Gibson syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

EED, EZH2
Specificity
50 %
Genes
100 %
Overgrowth syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

NSD1, SETD2, OFD1, DNMT3A, EED, EZH2, FBN1, GPC3, NFIX, PDGFRB, PIGA
Specificity
10 %
Genes
100 %
Weaver and Cohen-Gibson syndrome Comprehensive panel.

By Connective Tissue Gene Tests (United States).

EED, EZH2
Specificity
50 %
Genes
100 %
Macrocephaly / Overgrowth Syndrome Panel.

By Blueprint Genetics (Finland).

SYN1, MED12, TSC1, TSC2, NSD1, CCND2, RAB39B, MLC1, BRWD3, CDKN1C, SETD2, CHD8, UPF3B, RNF135, CUL4B, OFD1, HEPACAM, DHCR24, DIS3L2, WASHC5 , (...)

View the complete list with 23 more genes
Specificity
3 %
Genes
100 %
FoundationOneĀ® 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
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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