Orphanet: Lymphedema cerebral arteriovenous anomaly primary pulmonary hypertension syndrome

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Disease definition

Lymphedema-cerebral arteriovenous anomaly syndrome is characterised by the variable association of a cerebrovascular malformation, foot lymphoedema and primary pulmonary hypertension. It has been described in a woman and four of her children. There have been no further descriptions in the literature since 1986.

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Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome

ORPHA:86914

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