Van Den Ende-gupta Syndrome

Description

Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

Clinical Features

Top most frequent phenotypes and symptoms related to Van Den Ende-gupta Syndrome

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Muscular hypotonia
  • Cleft palate
  • Flexion contracture

And another 56 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.

Alternative names

Van Den Ende-gupta Syndrome Is also known as marden-walker-like syndrome, vdegs, blepharophimosis, arachnodactyly, and congenital contractures, marden-walker-like syndrome without psychomotor retardation.

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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Van Den Ende-gupta Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Contractures Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, SLC18A3, TNNI2, TNNT3, TPM2, TPM3, UBA1, ZMPSTE24, ACTA1, ADGRG6, SLC5A7, KLHL41, FKBP10, NEK9, NALCN, CHAT, CHRNA1, CHRNB1, CHRND, CHRNE , (...)

View the complete list with 37 more genes
Specificity
2 %
Genes
100 %
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 %
Van den Ende-Gupta syndrome (sequence analysis of SCARF2 gene).

By CGC Genetics (Portugal).

SCARF2
Specificity
100 %
Genes
100 %
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics (Portugal).

BMP4, SKI, TCF12, TGFBR1, TGFBR2, TWIST1, IFT122, RAB23, IRX5, TMCO1, WDR19, SCARF2, FREM1, IMPAD1, ESCO2, IFT140, WDR35, EFNB1, MEGF8, ERF , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Van den Ende-Gupta syndrome.

By Centogene AG - the Rare Disease Company (Germany).

SCARF2
Specificity
100 %
Genes
100 %
NGS panel - Aortic or arterial dilatation / dissection.

By Genome Diagnostics VU University Medical Center (Netherlands).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, EFEMP2, ELN, FBN1, FBN2, SMAD2, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection.

By Genome Diagnostics VU University Medical Center (Netherlands).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, EFEMP2, ELN, FBN1, FBN2, SMAD2, SMAD3, SMAD4, MYH11, MYLK, NOTCH1, PLOD1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
NGS panel- Aortic or arterial dilatation/dissection + COL5A1 + FLNA.

By Genome Diagnostics VU University Medical Center (Netherlands).

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, ACTA2, SLC2A10, SCARF2, COL3A1, COL5A1, EFEMP2, ELN, FBN1, FBN2, FLNA, SMAD2, SMAD3, SMAD4, MYH11, MYLK , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %

We have 4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Genetic Syndrome Finder

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