Fraser Syndrome 2; Frasrs2

Description

Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see {219000}.

Clinical Features

Top most frequent phenotypes and symptoms related to Fraser Syndrome 2; Frasrs2

  • Hydrocephalus
  • Syndactyly
  • Narrow mouth
  • Anal atresia
  • Pulmonary hypoplasia
  • Abdominal distention
  • Underdeveloped nasal alae
  • Renal agenesis
  • Ambiguous genitalia
  • Renal hypoplasia

And another 5 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.


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Fraser Syndrome 2; Frasrs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Abnormal/Ambiguous Genitalia Sequencing Panel.

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
2 %
Genes
100 %
Hypospadias Sequencing Panel.

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
2 %
Genes
100 %
FREM. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

FREM2
Specificity
100 %
Genes
100 %
FREM2-Related Fraser Syndrome.

By CGC Genetics (Portugal).

FREM2
Specificity
100 %
Genes
100 %
Fraser syndrome (sequence analysis of FREM2 gene).

By CGC Genetics (Portugal).

FREM2
Specificity
100 %
Genes
100 %
Fraser Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GRIP1, FRAS1, FREM1, FREM2
Specificity
25 %
Genes
100 %
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.

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
3 %
Genes
100 %
Hypospadias Sequencing Panel with CNV Detection.

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
2 %
Genes
100 %

We have 28 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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