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Milroy disease
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Description
Genetic changes
Inheritance
Diagnosis
Additional information
Other names
Glossary definitions
Reviewed May 2008
What is Milroy disease?
Milroy disease is a condition that affects the normal function of the lymphatic system. The
lymphatic system produces and transports fluids and immune cells throughout the body.
Abnormal transport and accumulation of lymph fluid can cause swelling (lymphedema).
Individuals with Milroy disease usually develop lymphedema in their lower legs and feet
soon after birth. The lymphedema typically occurs on both sides of the body and does not
worsen over time.
Milroy disease is associated with other features in addition to lymphedema. Males with
Milroy disease are sometimes born with an accumulation of fluid in the scrotum (hydrocele)
or abnormalities of the tube that carries urine from the bladder to the outside of the body
(urethra). People of both genders may have upslanting toenails, deep creases in the toes, wart-
like growths (papillomas), and prominent leg veins. Some individuals develop a non-
contagious skin infection called cellulitis, which can damage the thin tubes that carry lymph
fluid (lymphatic vessels). Cellulitis is more common in males than in females and causes
further swelling in the lower limbs.
How common is Milroy disease?
Milroy disease is a rare disorder; its incidence is unknown.
What genes are related to Milroy disease?
Mutations in the FLT4 gene cause some cases of Milroy disease. The FLT4 gene provides
instructions for producing a protein called vascular endothelial growth factor receptor 3
(VEGFR-3), which regulates the development and maintenance of the lymphatic system.
Mutations in the FLT4 gene interfere with the growth, movement, and survival of lymphatic
cells. These mutations lead to the development of small or absent lymphatic vessels. If lymph
fluid is not properly transported, it builds up in the body's tissues and causes lymphedema. It
is not known how mutations in the FLT4 gene lead to the other features of this disorder.
Many individuals with Milroy disease do not have a mutation in the FLT4 gene. In these
individuals, the cause of the disorder is unknown.
Read more about the FLT4 gene.
How do people inherit Milroy disease?
Milroy disease is inherited in an autosomal dominant pattern, which means one copy of the
altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person
inherits the mutation from one affected parent. Other cases may result from new mutations in
the FLT4 gene. These cases occur in people with no history of the disorder in their family.
About 10 percent to 15 percent of people with a mutation in the FLT4 gene do not develop
the features of Milroy disease.
Where can I find information about diagnosis or
management of Milroy disease?
These resources address the diagnosis or management of Milroy disease and may include
treatment providers.
Gene Review: Milroy Disease
Gene Tests: Milroy Disease
MedlinePlus Encyclopedia: Lymphatic obstruction
You might also find information on the diagnosis or management of Milroy disease in
Educational resources and Patient support.
General information about the diagnosis and management of genetic conditions is available in
the Handbook.
To locate a healthcare provider, see How can I find a genetics professional in my area? in the
Handbook.
Where can I find additional information about Milroy
disease?
You may find the following resources about Milroy disease helpful. These materials are
written for the general public.
MedlinePlus - Health information (2 links)
Genetic and Rare Diseases Information Center - Information about genetic
conditions and rare diseases
Educational resources - Information pages (6 links)
Patient support - For patients and families (4 links)
You may also be interested in these resources, which are designed for healthcare
professionals and researchers.
Gene Reviews - Clinical summary
Gene Tests - Genetic tests ordered by healthcare professionals
ClinicalTrials.gov - Linking patients to medical research
PubMed - Recent literature
OMIM - Genetic disorder catalog
What other names do people use for Milroy disease?
Congenital familial lymphedema
Hereditary lymphedema type I
Milroy's Disease
Nonne-Milroy lymphedema
For more information about naming genetic conditions, see the Genetics Home Reference
Condition Naming Guidelines and How are genetic conditions and genes named? in the
Handbook.
What if I still have specific questions about Milroy
disease?
Ask the Genetic and Rare Diseases Information Center .
Where can I find general information about genetic
conditions?
The Handbook provides basic information about genetics in clear language.
What does it mean if a disorder seems to run in my family?
What are the different ways in which a genetic condition can be inherited?
If a genetic disorder runs in my family, what are the chances that my children will
have the condition?
Why are some genetic conditions more common in particular ethnic groups?
These links provide additional genetics resources that may be useful.
Genetics and health
Resources for Patients and Families
Resources for Health Professionals
What glossary definitions help with understanding Milroy
disease?
autosomal ; autosomal dominant ; cell ; congenital ; familial ; gene ; growth factor ;
incidence ; infection ; lymph ; lymphatic system ; lymphedema ; mutation ; new mutation ;
papilloma ; protein ; receptor ; scrotum ; tissue ; vascular ; veins
You may find definitions for these and many other terms in the Genetics Home Reference
Glossary.
See also Understanding Medical Terminology.