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Lymphedema-Distichiasis Syndrome

Abstract

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NORD is very grateful to David A. Stevenson, MD, Assistant Professor, and Amy Calhoun, MD, Fellow, University of Utah, Department of Pediatrics, Division of Medical Genetics, for assistance in the preparation of this report.

Synonyms of Lymphedema-Distichiasis Syndrome

  • lymphedema with distichiasis

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Lymphedema-distichiasis syndrome is a rare genetic multisystem disorder characterized by swelling of the legs because of fluid accumulation and the development of extra eyelashes (distichiasis). Distichiasis may range from a few extra lashes to a full set of extra eyelashes. Swelling most often affects both legs (bilateral) and usually occurs around puberty. Additional anomalies sometimes associated with this disorder include early onset varicose veins, droopy eyelids (ptosis), cardiac (heart) defects, cleft palate, , cysts on the spinal cord, abnormal heart rhythm, and abnormal curvature of the spine (scoliosis). Lymphedema-distichiasis syndrome is caused by mutations of the FOXC2 gene and is inherited as an autosomal dominant trait.

Organizations related to Lymphedema-Distichiasis Syndrome

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