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April 25 2019

Research News: GeneReviews on Lymphedema-Distichiasis Syndrome updated


The GeneReviews, article on Lymphedema-Distichiasis syndrome (LDS), a disease covered by the Pediatric and Primary Lymphedema Working Group (PPL WG), has just been updated. It is co-authored by Prof Sahar Mansour (Co-Chair of the VASCERN PPL WG) and Dr. Peter Mortimer (PPL-WG member).

Lymphedema-distichiasis syndrome is a syndromic lymphedema disorder that associates lower-limb lymphedema with distichiasis (the abnormal growth of extra lashes along the eyelid margin, varying from a complete or partial set of extra eyelashes). While dischtichiasis may be present at birth, lymphedema does not typically present until late childhood or during puberty. This disease is caused by a mutation in the FOXC2 gene and is inherited in an autosomal dominant manner (i.e. a child of a parent with LDS has a 50% chance of inheriting the disease).

GeneReviews articles are freely accessible, international point-of-care resources for clinicians, providing clinically relevant information on inherited conditions, with standardized sections including clinical description, diagnosis/testing, differential diagnosis (outlining the overlapping and distinguishing features of several similar diseases), management and genetic counseling. This updated article is an invaluable tool for clinicians needing up-to-date and practical information on this rare syndromic form of primary lymphedema.

To access the full article on Lymphedema-Distichiasis syndrome click here

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