Sturge-weber Syndrome

Description

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

Clinical Features

Top most frequent phenotypes and symptoms related to Sturge-weber Syndrome

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly
  • Optic atrophy
  • Dysphagia
  • Hydrocephalus
  • Blindness
  • Behavioral abnormality

And another 27 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 STURGE-WEBER SYNDROME have a estimated birth prevalence of 3.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Sturge-weber Syndrome Is also known as sws, sturge-weber-dimitri syndrome, sturge-weber-krabbe angiomatosis, encephalofacial angiomatosis, sturge-weber-krabbe syndrome, encephalotrigeminal angiomatosis.

Researches and researchers

Doctors, researchs, and experts related to Sturge-weber Syndrome extracted from public data.

Sturge-weber Syndrome Experts map



Current Researchs and researchers

  • BRON — Pr Alexis ARZIMANOGLOU

    Investigator of clinical trial - Coordinator of research network

    • Institution/s:
      — CHU de Lyon HCL - GH Est-Hôpital Femme Mère Enfant
    • Research area/topic::

      NEUROPED: European network of reference for rare paediatric neurological diseases


  • DIJON — Dr Jean-Baptiste RIVIERE

    Investigator of research project

    • Institution/s:
      — CHU de Dijon - Plateau technique de Biologie
      — Université de Bourgogne
    • Research area/topic::

      MOSAIC: A genomic approach to identify postzygotic mutations in mosaic developmental diseases involving the skin



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sturge-weber Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Platelet Disorders.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RUNX1, STIM1, TBXA2R, TBXAS1, USF1, VPS33B, VWF, WAS, GP6, HPS3, HPS4, CD36, HPS5, DTNBP1, P2RY12, HPS6, MASTL, LYST, VIPAS39, FERMT3 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Uveal Melanoma-Related NGS Gene Panel: GNAQ, GNA11 and BAP1.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

GNA11, GNAQ, BAP1
Specificity
34 %
Genes
100 %
Somatic Overgrowth Gene Panel.

By Genetic Diagnostic Laboratory University of Pennsylvania School of Medicine (United States).

AKT1, AKT2, AKT3, MTOR, GNA11, GNAQ, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
GNAQ.

By Institute for Human Genetics University Clinic Freiburg (Germany).

GNAQ
Specificity
100 %
Genes
100 %
Vascular Malformations NGS Multi-Gene Panel (21 Genes).

By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam (Netherlands).

BMPR2, SOX18, TEK, GLMN, CAV1, KRIT1, ACVRL1, DOCK6, ANTXR1, CCM2, ENG, GDF2, GNAQ, KCNK3, KDR, SMAD4, MAP3K3, PDCD10, PIK3CA, PTEN , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Uveal melanoma and blue nevi (frequent somatic mutations at codon 209 of GNAQ gene).

By CGC Genetics (Portugal).

GNAQ
Specificity
100 %
Genes
100 %
Sturge-Weber syndrome (mutation p.Arg183Gln on GNAQ gene).

By CGC Genetics (Portugal).

GNAQ
Specificity
100 %
Genes
100 %
Capillary malformations, congenital (mutation p. Arg183GIn on GNAQ gene).

By CGC Genetics (Portugal).

GNAQ
Specificity
100 %
Genes
100 %

We have 34 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like WOLMAN DISEASE NAXOS DISEASE; NXD BRUGADA SYNDROME 9; BRGDA9 ACROFACIAL DYSOSTOSIS 1, NAGER TYPE; AFD1 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iy; CDG1Y MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more