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Parkes Weber syndrome

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Disease 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.

ORPHA:90307

Classification level: Disorder

Prevalence: Unknown

Inheritance: Autosomal dominant, Not applicable

Age of onset: Infancy, Neonatal

ICD-10: Q87.2

ICD-11: LD26.60

OMIM: 608354

UMLS: C5574870

GARD: 9787

MedDRA: 10075554

A summary on this disease is available in Français, Español, Deutsch, Português, Nederlands, Polski
Detailed information

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

General public
Article for general public
Svenska (2023) - Socialstyrelsen
Guidelines
Emergency guidelines
Français (2018.pdf) - Orphanet Urgences
Anesthesia guidelines
English (2017) - Orphananesthesia
Čeština (2017) - Orphananesthesia
Disease review articles
Clinical genetics review
English (2019) - GeneReviews
The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.