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Parkes-Weber syndrome in Infant/Neonate
Other Resources UpToDate PubMed

Parkes-Weber syndrome in Infant/Neonate

Contributors: Vivian Wong MD, PhD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Parkes-Weber syndrome is a rare vascular malformation syndrome with extensive capillary malformations that appear at birth or during early childhood. Associated high-flow arteriovenous fistulas cause abnormal growth of the soft tissue and bony structures of a limb, with subsequent overgrowth of length and girth. A single lower extremity is typically involved, though cases with multiple limb involvement have been reported. High-flow arteriovenous shunts may also result in tachycardia, hypertension, and high-output cardiac failure. Cases are usually sporadic. Some cases are inherited in an autosomal dominant pattern due to mutations in the RASA1 gene. There is no known sex or ethnic predilection. Prognosis may be poor due to complications including bleeding, limb ischemia, and heart failure.

Codes

ICD10CM:
Q87.2 – Congenital malformation syndromes predominantly involving limbs

SNOMEDCT:
234143003 – Parkes Weber syndrome

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Last Updated:01/20/2022
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Parkes-Weber syndrome in Infant/Neonate
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A medical illustration showing key findings of Parkes-Weber syndrome : Asymmetric trunk or extremity distribution, Unilateral distribution, Limb hypertrophy
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