Chitayat Syndrome; Chyts
Description
Chitayat syndrome is a rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose (summary by Balasubramanian et al., 2017).
Clinical Features
Top most frequent phenotypes and symptoms related to Chitayat Syndrome; Chyts
- Generalized hypotonia
- Hypertelorism
- Abnormal facial shape
- Depressed nasal bridge
- Brachydactyly
- Anteverted nares
- Respiratory distress
- Long philtrum
- Syndactyly
- Midface retrusion
And another 26 symptoms. If you need more information about this disease we can help you.
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.Chitayat Syndrome; Chyts 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 % |
Craniosynostosis.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).
RUNX2, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, ASXL1, WDR19, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)
View the complete list with 7 more genes
Specificity
4 %
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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