C Syndrome
Description
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
Clinical Features
Top most frequent phenotypes and symptoms related to C Syndrome
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Growth delay
- Hypertelorism
- Failure to thrive
And another 103 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available C SYNDROME have a estimated prevalence of 0.11 per 100k worldwide.— No data available about the known clinical features onset.
Alternative names
C Syndrome Is also known as opitz c trigonocephaly, trigonocephaly syndrome, trigonocephaly c syndrome, otcs, opitz trigonocephaly syndrome, opitz trigonocephaly c syndrome.
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.C Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Craniofacial Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
Craniofacial Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, CDC45, WDR19, FAM20C, WDR35, IFT43, DPH1, EFNB1, MEGF8, ERF , (...)
View the complete list with 11 more genes
Specificity
4 %
Genes
100 % |
CD96. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
CD96
Specificity
100 %
Genes
100 % |
Craniosynostosis Sequence Analysis.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RUNX2, SKI, TCF12, TWIST1, ZIC1, IFT122, RAB23, CD96, SPECC1L, WDR35, IFT43, EFNB1, MEGF8, ERF, MSX2, POR, RECQL4
Specificity
6 %
Genes
100 % |
Craniofacial Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
Craniosynostosis Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RUNX2, SKI, TCF12, TWIST1, ZIC1, IFT122, RAB23, CD96, SPECC1L, WDR35, IFT43, EFNB1, MEGF8, ERF, MSX2, POR, RECQL4
Specificity
6 %
Genes
100 % |
Craniosynostosis Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RUNX2, SKI, TCF12, TWIST1, ZIC1, IFT122, RAB23, CD96, SPECC1L, WDR35, IFT43, EFNB1, MEGF8, ERF, MSX2, POR, RECQL4
Specificity
6 %
Genes
100 % |
Craniofacial Seq + Del/Dup Panel.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).
RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)
View the complete list with 22 more genes
Specificity
3 %
Genes
100 % |
You can get up to 15 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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