Overview
Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its three main features. Distichiasis means an extra row of eyelashes grows from the inner eyelid margin, which can irritate the eyes and cause tearing, redness, or damage to the surface of the eye (cornea). Congenital heart defects are heart problems present from birth, which can range from mild to severe and may include holes between heart chambers or problems with heart valves. Peripheral vascular anomalies refer to abnormalities in the blood vessels or lymphatic vessels outside the heart, which can cause swelling in the legs (lymphedema), varicose veins, or other circulation problems. This syndrome shares features with lymphedema-distichiasis syndrome, and some researchers consider it to be part of a related spectrum of conditions. Because the condition is so rare, treatment is tailored to each person's specific symptoms. Eye problems may be managed by removing the extra eyelashes or with lubricating eye drops. Heart defects may require monitoring, medication, or surgery depending on severity. Vascular and lymphatic problems are managed with compression therapy, physical therapy, or sometimes surgery. Early diagnosis and coordinated care from multiple specialists are important for the best possible outcomes.
Key symptoms:
Extra row of eyelashes (distichiasis)Eye irritation, redness, or tearingCorneal scratching or damage from abnormal eyelashesHeart defects present at birthSwelling in the legs or arms (lymphedema)Varicose veinsAbnormal blood vessels or lymphatic vesselsRecurrent skin infections in swollen areasShortness of breath or fatigue from heart problemsPoor circulation in the hands or feet
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome.
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 Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome.
Community
No community posts yet. Be the first to share your experience with Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome.
Start the conversation →Latest news about Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome
No recent news articles for Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome.
Follow this condition to be notified when news becomes available.
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.How severe is my child's heart defect, and will it need surgery?,How often should my child's eyes be checked for damage from the extra eyelashes?,What is the best way to manage lymphedema on a daily basis?,Are there any activity restrictions my child should follow?,Should other family members be tested for this condition?,What signs of complications should I watch for at home?,Are there any clinical trials or new treatments being studied for this condition?
Common questions about Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome
What is Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome?
Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome is an extremely rare genetic condition that affects several parts of the body at the same time. The name describes its three main features. Distichiasis means an extra row of eyelashes grows from the inner eyelid margin, which can irritate the eyes and cause tearing, redness, or damage to the surface of the eye (cornea). Congenital heart defects are heart problems present from birth, which can range from mild to severe and may include holes between heart chambers or problems with heart valves. Peripheral vascular anom
How is Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome inherited?
Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome typically begin?
Typical onset of Distichiasis-congenital heart defects-peripheral vascular anomalies syndrome is neonatal. Age of onset can vary across affected individuals.