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Diseases

Genetic and Rare Diseases Information Center (GARD)

Milroy disease


Other Names for this Disease
  • Congenital hereditary lymphedema
  • Early onset lymphedema
  • Hereditary lymphedema
  • Hereditary lymphedema 1
  • Hereditary lymphedema type I
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Milroy disease is a lymphatic disease that causes swelling (lymphedema) in the lower legs and feet. Lymphedema is usually present at birth or develops in infancy. It typically occurs on both sides of the body and can worsen over time. Other symptoms may include accumulation of fluid in the scrotum in males (hydrocele), upslanting toenails, deep creases in the toes, wart-like growths, prominent leg veins, and/or cellulitis. Milroy disease is sometimes caused by changes (mutations) in the FLT4 gene and is inherited in an autosomal dominant manner. In many cases, the cause remains unknown.[1] Treatment may include lymphedema therapy to improve function and alleviate symptoms.[2]
Last updated: 1/29/2015

References

  1. Milroy disease. Genetics Home Reference. April, 2013; http://ghr.nlm.nih.gov/condition/milroy-disease.
  2. Glen W Brice, Sahar Mansour, Pia Ostergaard, Fiona Connell, Steve Jeffery, and Peter Mortimer. Milroy Disease. GeneReviews. September 25, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1239/.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Milroy disease. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.

In Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Milroy disease. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Congenital hereditary lymphedema
  • Early onset lymphedema
  • Hereditary lymphedema
  • Hereditary lymphedema 1
  • Hereditary lymphedema type I
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.