Overview
Rare capillary malformation with associated anomalies is an uncommon vascular condition that is present from birth. Capillary malformations are flat, pink or red birthmarks on the skin caused by abnormal tiny blood vessels (capillaries) near the surface of the skin. In this particular condition, these birthmarks occur alongside other body abnormalities, which may involve the brain, limbs, eyes, or other organs. The specific combination and severity of associated anomalies can vary widely from person to person. The capillary malformations typically appear as port-wine stain-like patches on the skin that do not fade over time. Depending on which additional anomalies are present, affected individuals may experience a range of problems including overgrowth of certain body parts, neurological issues, or eye abnormalities. Because this is a very rare and broadly defined condition, the exact features can differ significantly between patients. Treatment is generally focused on managing the specific symptoms each person has. Laser therapy (such as pulsed dye laser) may be used to lighten the skin birthmarks. Other treatments depend on which associated anomalies are present and may include surgery, physical therapy, or medications to manage complications. A team of specialists is usually needed to provide comprehensive care.
Key symptoms:
Flat pink or red birthmarks on the skin (port-wine stains)Overgrowth of a limb or body partDifferences in limb size between left and right sidesSeizures or other neurological problemsEye abnormalities such as glaucomaDevelopmental delays in some casesSoft tissue or bone overgrowthSkin color changes that darken over timePossible brain abnormalities seen on imagingPossible vein or lymph vessel abnormalities
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 capillary malformation with associated anomalies.
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Specialists
View all specialists →No specialists are currently listed for Rare capillary malformation with associated anomalies.
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 capillary malformation with associated anomalies.
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 specific anomalies does my child have in addition to the capillary malformation?,Should we pursue genetic testing, and what type would be most helpful?,How often should we schedule follow-up imaging and eye exams?,Are there any targeted therapies or clinical trials that might be appropriate?,What signs or symptoms should prompt an emergency visit?,Will my child need surgery for any of the associated anomalies?,Is there a risk that future children could have the same condition?
Common questions about Rare capillary malformation with associated anomalies
What is Rare capillary malformation with associated anomalies?
Rare capillary malformation with associated anomalies is an uncommon vascular condition that is present from birth. Capillary malformations are flat, pink or red birthmarks on the skin caused by abnormal tiny blood vessels (capillaries) near the surface of the skin. In this particular condition, these birthmarks occur alongside other body abnormalities, which may involve the brain, limbs, eyes, or other organs. The specific combination and severity of associated anomalies can vary widely from person to person. The capillary malformations typically appear as port-wine stain-like patches on the
At what age does Rare capillary malformation with associated anomalies typically begin?
Typical onset of Rare capillary malformation with associated anomalies is neonatal. Age of onset can vary across affected individuals.