Sneddon Syndrome

Description

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

Clinical Features

Top most frequent phenotypes and symptoms related to Sneddon Syndrome

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay
  • Hypertension
  • Dysarthria
  • Tremor
  • Behavioral abnormality
  • Headache

And another 39 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 SNEDDON SYNDROME have a estimated incidence of 0.4 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Sneddon Syndrome Is also known as livedo reticularis-cerebrovascular accident syndrome, livedo racemosa-cerebrovascular accident syndrome, livedo reticularis and cerebrovascular accidents, ehrmann-sneddon syndrome.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sneddon Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CECR1 Gene Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

ADA2
Specificity
100 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
CECR1.

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

ADA2
Specificity
100 %
Genes
100 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %
Polyarteritis nodosa (sequence analysis of CECR1 gene).

By CGC Genetics (Portugal).

ADA2
Specificity
100 %
Genes
100 %
CECR1.

By MGZ Medical Genetics Center (Germany).

ADA2
Specificity
100 %
Genes
100 %

We have 11 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM MESH 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 VERHEIJ SYNDROME; VRJS POROKERATOSIS 3, MULTIPLE TYPES; POROK3 ZEBRA BODY MYOPATHY PERIVENTRICULAR NODULAR HETEROTOPIA 1; PVNH1 METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA, TYPE CBLC ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 13; ARVD13

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more