Sweeney-cox Syndrome; Swcos

Description

Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Clinical Features

Top most frequent phenotypes and symptoms related to Sweeney-cox Syndrome; Swcos

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears
  • High palate
  • Delayed speech and language development

And another 33 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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Sweeney-cox Syndrome; Swcos Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Craniosynostosis Panel.

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

TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
15 %
Genes
100 %
Saethre-Chotzen syndrome.

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

TWIST1
Specificity
100 %
Genes
100 %
Saethre-Chotzen Syndrome - TWIST1 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

TWIST1
Specificity
100 %
Genes
100 %
Test for Saethre-Chotzen Syndrome.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

TWIST1
Specificity
100 %
Genes
100 %
Saethre-Chotzen Syndrome.

By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital (United States).

TWIST1, FGFR2, FGFR3
Specificity
34 %
Genes
100 %
Saethre-Chotzen Syndrome - Twist Gene Analysis.

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

TWIST1
Specificity
100 %
Genes
100 %
Craniodysmorphology Panel (FGFR1,2,3,TWIST).

By Center for Genetics at Saint Francis Saint Francis Hospital (United States).

TWIST1, FGFR2
Specificity
50 %
Genes
100 %
Craniosynostosis.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1 , (...)

View the complete list with 3 more genes
Specificity
5 %
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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