Overview
Rare genetic venous malformation is an uncommon condition where veins in the body develop abnormally due to changes (mutations) in specific genes. Venous malformations are a type of vascular anomaly, meaning they involve blood vessels that did not form correctly during development. These malformations are made up of abnormally widened and tangled veins that can appear as soft, bluish lumps under the skin or within deeper tissues and organs. They are typically present at birth, though they may not always be noticed right away and can grow slowly over time. The symptoms depend on where the malformation is located and how large it is. Common problems include pain, swelling, and a visible bluish discoloration of the skin. Some venous malformations can cause blood clots within the abnormal veins, leading to localized pain and hardness. In more severe cases, large or widespread malformations can affect the function of nearby muscles, joints, or organs. Some patients may experience bleeding or problems with blood clotting. Treatment is tailored to each patient and may include compression garments, pain management, sclerotherapy (injecting a substance to shrink the malformation), and sometimes surgery. Newer targeted therapies, such as drugs that block specific signaling pathways involved in abnormal vessel growth, are being studied and used in some cases. Because this is a genetic condition, genetic counseling is recommended for affected individuals and their families.
Key symptoms:
Soft bluish lumps or swelling under the skinPain in the affected area, especially with activitySwelling that may worsen when standing or with exertionBluish or purplish skin discolorationBlood clots forming within the malformation (causing hard, painful lumps)Stiffness or limited movement in nearby jointsMuscle weakness near the malformationBleeding from the malformationEnlargement of the affected area over timeFatigue or tirednessProblems with blood clotting (low-grade coagulopathy)Disfigurement or cosmetic concerns
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 Rare genetic venous malformation.
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Specialists
View all specialists →No specialists are currently listed for Rare genetic venous malformation.
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 Rare genetic venous malformation.
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.What gene mutation is causing my (or my child's) venous malformation, and does it affect treatment options?,How often should we have imaging done to monitor the malformation?,Is sclerotherapy or surgery recommended in our case, and what are the risks?,Would a targeted therapy like sirolimus be appropriate, and what are the potential side effects?,Are there any activities or situations we should avoid to prevent complications?,Should other family members be tested for this genetic condition?,Are there any clinical trials we should consider?
Common questions about Rare genetic venous malformation
What is Rare genetic venous malformation?
Rare genetic venous malformation is an uncommon condition where veins in the body develop abnormally due to changes (mutations) in specific genes. Venous malformations are a type of vascular anomaly, meaning they involve blood vessels that did not form correctly during development. These malformations are made up of abnormally widened and tangled veins that can appear as soft, bluish lumps under the skin or within deeper tissues and organs. They are typically present at birth, though they may not always be noticed right away and can grow slowly over time. The symptoms depend on where the malf
At what age does Rare genetic venous malformation typically begin?
Typical onset of Rare genetic venous malformation is neonatal. Age of onset can vary across affected individuals.