Fraser Syndrome
Description
Fraser syndrome is a rare clinical entity including as main characteristics cryptophthalmos and syndactyly.
Clinical Features
Top most frequent phenotypes and symptoms related to Fraser Syndrome
- Intellectual disability
- Microcephaly
- Hypertelorism
- Cryptorchidism
- High palate
- Depressed nasal bridge
- Wide nasal bridge
- Blindness
- Microphthalmia
- Abnormality of cardiovascular system morphology
And another 47 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Based on the latest data available FRASER SYNDROME have a estimated birth prevalence of 0.2 per 100k worldwide.— No data available about the known clinical features onset.
Alternative names
Fraser Syndrome Is also known as cryptophthalmos-syndactyly syndrome.
Researches and researchers
Doctors, researchs, and experts related to Fraser Syndrome extracted from public data.
Fraser Syndrome Experts map
Current Researchs and researchers
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Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network - Director of departmentMAGDEBURG — Pr Martin ZENKER
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Institution/s:
— Universitätsklinikum Magdeburg A.ö.R
— Universitätsklinikum Magdeburg A.ö.R -
Research area/topic::
Fraser syndrome: mutation search and genotype-phenotype correlation
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Institution/s:
Fraser Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By Genetic Services Laboratory University of Chicago (United States).
ROR2, SALL1, BMP4, SEMA3A, SOX9, SRD5A2, SRY, STAR, TBX15, CEP41, TSPYL1, WNT4, WNT7A, WT1, SETBP1, ZFPM2, UBR1, FIG4, IL17RD, CDKN1C , (...)
View the complete list with 52 more genes
Specificity
5 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
SALL1, BMP4, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, ZEB2, SETBP1, TP63, PCNT, UBR1, FIG4, CDKN1C, ARX, GRIP1, FRAS1, EVC2 , (...)
View the complete list with 41 more genes
Specificity
5 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
FREM2
Specificity
100 %
Genes
34 % |
![]() By CGC Genetics (Portugal).
FREM2
Specificity
100 %
Genes
34 % |
![]() By CGC Genetics (Portugal).
FREM2
Specificity
100 %
Genes
34 % |
![]() By PreventionGenetics PreventionGenetics (United States).
GRIP1, FRAS1, FREM1, FREM2
Specificity
75 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...)
View the complete list with 27 more genes
Specificity
7 %
Genes
100 % |
![]() By PreventionGenetics PreventionGenetics (United States).
SALL1, BMP4, BMP7, SOX2, SRD5A2, HNF1B, MED12, WNT7A, WT1, FBXL4, WDR11, ZEB2, SETBP1, TP63, PCNT, ZFPM2, UBR1, FIG4, CDKN1C, ARX , (...)
View the complete list with 53 more genes
Specificity
5 %
Genes
100 % |
You can get up to 50 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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