Parkes Weber syndrome
Findings
No curated finding names Parkes Weber syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare congenital complex vascular malformation syndrome characterized by overgrowth of a limb (most commonly a leg) involving bones and soft tissue, in association with capillary malformations usually in the form of port-wine stains and multiple arteriovenous fistulas with high-flow arteriovenous shunting. The latter can also lead to other severe complications including abnormal bleeding and heart failure. Lymphatic malformations may also be present.
Definition from the Mondo Disease Ontology (MONDO:0700325), read 2026-09-29. CC BY 4.0.
Features
44 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.
- Abnormality of the lower limbHPOHP:0002814
- Very frequent (80% to 99% of cases)
- Arteriovenous malformationHPOHP:0100026
- Very frequent (80% to 99% of cases)
- Arteriovenous fistulaHPOHP:0004947
- Frequent (30% to 79% of cases)
- Bounding pulseHPOHP:0032555
- Frequent (30% to 79% of cases)
- Capillary malformationHPOHP:0025104
- Frequent (30% to 79% of cases)
- Erythematous plaqueHPOHP:0025474
- Frequent (30% to 79% of cases)
- Hemihypertrophy of lower limb
Show the remaining 32
- Vascular dilatationHPOHP:0002617
- Frequent (30% to 79% of cases)
- Vascular tortuosityHPOHP:0004948
- Frequent (30% to 79% of cases)
- Venous malformationHPOHP:0012721
- Frequent (30% to 79% of cases)
- Abnormal bleedingHPOHP:0001892
- Occasional (5% to 29% of cases)
- Abnormal circulating B-type natriuretic peptide concentrationHPOHP:0031138
- Occasional (5% to 29% of cases)
- Abnormal femoral metaphysis morphologyHPOHP:0006489
- Occasional (5% to 29% 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.
- RASA1HGNC:9871
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: Parkes Weber syndrome
- Also called
- PWS