Sweeney-cox Syndrome; Swcos

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Sweeney-cox Syndrome; Swcos

TWIST1

View recommended genes panels

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.

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 Panel complete gene list SKI, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, ASXL1, WDR19, WDR35, IFT43, EFNB1, FBN1, FGFR1, FGFR2, FGFR3, GLI3, ALPL, ALX4, IL11RA, MASP1, MSX2, POR, RECQL4 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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