Overview
Genetic complex vascular malformation with associated anomalies is a rare condition in which a person is born with abnormal blood vessels — including veins, arteries, capillaries, or lymphatic vessels — that develop incorrectly during early growth in the womb. Unlike simple vascular malformations that involve only one type of vessel, complex vascular malformations involve a combination of vessel types and are accompanied by other body abnormalities (anomalies). These associated anomalies can affect the bones, soft tissues, skin, and internal organs, and may include overgrowth of a limb, asymmetric body growth, skin discoloration (such as port-wine stains or other birthmarks), and problems with blood clotting. Symptoms vary widely depending on which blood vessels are affected and where in the body the malformations occur. Some people have mild symptoms, while others face serious complications such as chronic pain, bleeding, infections, or organ dysfunction. The malformations are present at birth but may become more noticeable as a child grows. Because these conditions are caused by genetic changes, they are not the result of anything that happened during pregnancy. Treatment is tailored to each individual and is usually managed by a multidisciplinary team. Options may include compression garments, sclerotherapy (injecting a substance to shrink abnormal vessels), laser therapy, surgery, and medications such as sirolimus that target the pathways involved in abnormal vessel growth. There is currently no cure, and management focuses on controlling symptoms, preventing complications, and improving quality of life.
Also known as:
Key symptoms:
Visible birthmarks or skin discoloration such as port-wine stainsSwelling or enlargement of a limb or body partAsymmetric body growth (one side larger than the other)Chronic pain in the affected areaWarm or tender lumps under the skinBleeding from abnormal blood vesselsBlood clotting problemsSkin ulcers or wounds that heal slowlyBone overgrowth or undergrowthSoft tissue massesLymphatic fluid leakage or swelling (lymphedema)Recurrent infections in affected areasFatigue due to chronic blood loss or painDifficulty moving the affected limb
Variable
Can be inherited in different ways depending on the underlying gene
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Genetic complex vascular malformation with associated anomalies.
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Rare Disease Specialist
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 Genetic complex vascular malformation with associated anomalies.
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Questions for your doctor
Bring these to your next appointment
- Q1.What type of vascular malformation does my child have, and which blood vessels are involved?,Has genetic testing been done, and if so, what mutation was found and what does it mean for treatment?,What are the treatment options, and what are the risks and benefits of each?,Is my child a candidate for targeted therapy such as sirolimus or alpelisib?,How often will imaging and follow-up visits be needed?,What warning signs should I watch for that would require emergency care?,Are there any clinical trials available for this condition?
Common questions about Genetic complex vascular malformation with associated anomalies
What is Genetic complex vascular malformation with associated anomalies?
Genetic complex vascular malformation with associated anomalies is a rare condition in which a person is born with abnormal blood vessels — including veins, arteries, capillaries, or lymphatic vessels — that develop incorrectly during early growth in the womb. Unlike simple vascular malformations that involve only one type of vessel, complex vascular malformations involve a combination of vessel types and are accompanied by other body abnormalities (anomalies). These associated anomalies can affect the bones, soft tissues, skin, and internal organs, and may include overgrowth of a limb, asymme
At what age does Genetic complex vascular malformation with associated anomalies typically begin?
Typical onset of Genetic complex vascular malformation with associated anomalies is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Genetic complex vascular malformation with associated anomalies?
6 specialists and care centers treating Genetic complex vascular malformation with associated anomalies are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.