Sneddon syndrome
Findings
No curated finding names Sneddon syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.
Definition from the Mondo Disease Ontology (MONDO:0008436), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
65 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bicuspid aortic valveHPOHP:0001647
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
- Decreased circulating IgM concentrationHPOHP:0002850
- 1 of 1 reported patient
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 1 reported patient
- Impaired distal tactile sensationHPOHP:0006937
- 1 of 1 reported patient
- LivedoHPOHP:0033832
- 1 of 1 reported patient
- Livedo racemosaHPOHP:0033260
- 3 of 3 reported patients
- Obligate (100% of cases)
Show the remaining 53
- HeadacheHPOHP:0002315
- Very frequent (80% to 99% of cases)
- Memory impairmentHPOHP:0002354
- Very frequent (80% to 99% of cases)
- MigraineHPOHP:0002076
- Very frequent (80% to 99% of cases)
- Sensorimotor neuropathyHPOHP:0007141
- Very frequent (80% to 99% of cases)
- Thromboembolic strokeHPOHP:0001727
- Very frequent (80% to 99% of cases)
- Vascular skin abnormalityHPOHP:0011276
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ADA2HGNC:1839
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
3 names
Resolves to: Sneddon syndrome
- Also called
- Ehrmann-Sneddon syndromelivedo racemosa-cerebrovascular accident syndromelivedo reticularis-cerebrovascular accident syndrome