This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|30%-79% of people have these symptoms|
Bacterial infection of skin
Skin infection[ more ]
Fluid accumulation in lower limbs
Lower leg swelling[ more ]
|Predominantly lower limb lymphedema||0003550|
Abnormal toenail development
|5%-29% of people have these symptoms|
Psychiatric disturbances[ more ]
Prominent eye folds[ more ]
Tumor of the skin[ more ]
|Specific learning disability||0001328|
|1%-4% of people have these symptoms|
|Abnormal facial shape||
Unusual facial appearance
|Hypoplasia of lymphatic vessels||
Underdeveloped lymphatic vessels
|Nonimmune hydrops fetalis||0001790|
|Prominent superficial veins||
|Percent of people who have these symptoms is not available through HPO|
Symptoms present at birth
|Hyperkeratosis over edematous areas||0007448|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have this condition since I was a child. It has presented itself in both lower legs, the left arm, the ring finger of my left hand, my crotch, and is presently in the middle finger of my right hand. Is it usual for Milroy disease to travel around the body like this? Is there a cure? See answer
I have two older brothers with Milroy disease. I do not exhibit any signs or symptoms of the condition. I am currently pregnant and was under the impression that since I do not show the signs of Milroy disease that my offspring would not be at risk for this disorder. Am I correct in my understanding that an autosomal dominant trait must be present in order to be passed on to offspring? See answer
Are there any clinical trials or testing being done anywhere on Nonne-Milroy disease? See answer