Jackson-weiss Syndrome; Jws
Clinical Features
Top most frequent phenotypes and symptoms related to Jackson-weiss Syndrome; Jws
- Intellectual disability
- Hypertelorism
- Strabismus
- Cleft palate
- Ptosis
- Depressed nasal bridge
- Frontal bossing
- Abnormality of the skeletal system
- Hydrocephalus
- Malar flattening
And another 29 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.
Alternative names
Jackson-weiss Syndrome; Jws Is also known as craniosynostosis, midfacial hypoplasia, and foot abnormalities.
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.Jackson-weiss Syndrome; Jws Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Baylor Miraca Genetics Laboratories (United States).
RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)
View the complete list with 9 more genes
Specificity
4 %
Genes
50 % |
![]() By Athena Diagnostics Inc (United States).
BCS1L, ROR1, SALL1, SEMA3E, SIX1, SIX5, SLC12A1, SLC19A2, SLC22A4, SNAI2, SMPX, SOX10, TBX1, TCOF1, TECTA, TFAP2A, TIMM8A, TJP2, TMPRSS3, USH1C , (...)
View the complete list with 149 more genes
Specificity
2 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
TWIST1, RAB23, FGFR1, FGFR2, MSX2, POR, RECQL4
Specificity
29 %
Genes
100 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
FGFR2
Specificity
100 %
Genes
50 % |
![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
FGFR2
Specificity
100 %
Genes
50 % |
![]() By Center for Human Genetics, Inc (United States).
FGFR2
Specificity
100 %
Genes
50 % |
![]() By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
FGFR2
Specificity
100 %
Genes
50 % |
![]() By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).
FGFR2
Specificity
100 %
Genes
50 % |
You can get up to 289 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
MESH OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUCOLIPIDOSIS III GAMMA OROFACIODIGITAL SYNDROME V; OFD5 FRAGILE X SYNDROME; FXS