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.

Click here to know more about Mendelian.

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

  • MAGDEBURG — Pr Martin ZENKER

    Coordinator of expert centre - Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network - Director of department

    • Institution/s:
      — Universitätsklinikum Magdeburg A.ö.R
      — Universitätsklinikum Magdeburg A.ö.R
    • Research area/topic::

      Fraser syndrome: mutation search and genotype-phenotype correlation


Fraser Syndrome 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
5 %
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
5 %
Genes
100 %
FREM. Complete sequencing.

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

FREM2
Specificity
100 %
Genes
34 %
FREM2-Related Fraser Syndrome.

By CGC Genetics (Portugal).

FREM2
Specificity
100 %
Genes
34 %
Fraser syndrome (sequence analysis of FREM2 gene).

By CGC Genetics (Portugal).

FREM2
Specificity
100 %
Genes
34 %
Fraser Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

GRIP1, FRAS1, FREM1, FREM2
Specificity
75 %
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
7 %
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
5 %
Genes
100 %

You can get up to 50 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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