Overview
Disorder with multisystemic involvement and primary lymphedema (Orphanet code 568047) is a rare genetic condition that affects multiple body systems at the same time, with primary lymphedema being one of its defining features. Primary lymphedema means the lymphatic system — the network of vessels that drains excess fluid from body tissues — does not work properly from birth or early in life. This causes fluid to build up under the skin, most often in the legs, arms, or face, leading to persistent swelling. Beyond the swelling, this disorder can affect many other parts of the body, which is why it is called 'multisystemic.' Depending on the specific genetic cause, a person may also experience heart problems, intellectual disability, unusual facial features, skin changes, or issues with other organs. Because this is an umbrella term covering a group of related but distinct conditions, the exact symptoms can vary quite a bit from person to person. Treatment is currently focused on managing symptoms rather than curing the disease. Lymphedema is typically managed with compression garments, specialized massage techniques called manual lymphatic drainage, and careful skin care to prevent infections. Other symptoms are treated by the relevant specialists. Research into the underlying genetic causes is ongoing, which may open doors to more targeted therapies in the future.
Key symptoms:
Persistent swelling of the legs, arms, or face due to fluid buildup (lymphedema)Swelling present from birth or developing in early childhoodHeart defects or structural heart problemsIntellectual disability or learning difficultiesDistinctive facial features such as widely spaced eyes or low-set earsSkin changes or thickening over swollen areasRecurrent skin infections (cellulitis) in swollen areasShort stature or slow growthHearing lossVision problemsAbnormalities of the genitals or urinary tractBreathing difficulties in some cases
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Disorder with multisystemic involvement and primary lymphedema.
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Specialists
View all specialists →No specialists are currently listed for Disorder with multisystemic involvement and primary lymphedema.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Disorder with multisystemic involvement and primary lymphedema.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific gene or genetic syndrome is causing my (or my child's) condition, and what does that mean for our family?,Should other family members be tested for the same genetic change?,What specialists should be part of our care team, and how often should we see each one?,What are the warning signs of a serious infection or other complication that should prompt an emergency visit?,What lymphedema therapies are available in our area, and are they covered by insurance?,Are there any clinical trials or research studies we might be eligible for?,What support services or patient organizations can help us connect with others living with this condition?
Common questions about Disorder with multisystemic involvement and primary lymphedema
What is Disorder with multisystemic involvement and primary lymphedema?
Disorder with multisystemic involvement and primary lymphedema (Orphanet code 568047) is a rare genetic condition that affects multiple body systems at the same time, with primary lymphedema being one of its defining features. Primary lymphedema means the lymphatic system — the network of vessels that drains excess fluid from body tissues — does not work properly from birth or early in life. This causes fluid to build up under the skin, most often in the legs, arms, or face, leading to persistent swelling. Beyond the swelling, this disorder can affect many other parts of the body, which is wh