Overview
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome is an extremely rare genetic condition that affects the heart and hands. The name describes its three main features. A patent ductus arteriosus (PDA) is a heart defect present at birth where a blood vessel called the ductus arteriosus, which normally closes shortly after birth, stays open. This can cause abnormal blood flow between the two major arteries leaving the heart. A bicuspid aortic valve means the aortic valve has two flaps instead of the normal three, which can affect how well the valve opens and closes. Hand anomalies in this syndrome can include differences in the shape, size, or structure of the fingers or hands. Because this syndrome involves both heart defects and limb differences, it is classified as a multiple congenital anomaly syndrome. The condition is typically identified at birth or in early infancy when heart murmurs or hand differences are noticed. Treatment focuses on managing the heart defects, which may require medication or surgery to close the PDA and monitor or repair the bicuspid aortic valve. Hand anomalies may also require surgical correction or occupational therapy depending on their severity. Long-term follow-up with a cardiologist is important to watch for complications such as valve narrowing or leaking over time.
Key symptoms:
Heart murmur detected at birthPatent ductus arteriosus (a blood vessel in the heart that stays open after birth)Bicuspid aortic valve (the aortic valve has two flaps instead of three)Abnormalities of the fingers or handsShort fingers or toesFifth finger curving inward (clinodactyly)Breathing difficulties in infancyPoor feeding in newbornsFatigue or tiring easilyDelayed growth in some cases
Clinical phenotype terms (8)— hover any for plain English
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)
FDA & Trial Timeline
1 eventVERMOX 500 mg chewable tablets: FDA approved
treatment of patients one year of age and older withgastrointestinal infections caused by Ascaris lumbricoides (roundworm) and Trichuris trichiura (whipworm)
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableVERMOX 500 mg chewable tablets
treatment of patients one year of age and older withgastrointestinal infections caused by Ascaris lumbricoides (roundworm) and Trichuris trichiura (whipworm)
Clinical Trials
View all trials with filters →No actively recruiting trials found for Patent ductus arteriosus-bicuspid aortic valve-hand 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 Patent ductus arteriosus-bicuspid aortic valve-hand 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 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome.
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.How severe is my child's patent ductus arteriosus, and will it need surgery or can it be treated with medication?,How often should the bicuspid aortic valve be monitored, and what signs of worsening should I watch for?,Are there any activity or exercise restrictions my child should follow?,Would genetic testing help us understand the cause and the chance of this happening in future pregnancies?,Does my child need antibiotics before dental procedures to prevent heart infections?,What therapies are available to help with hand function?,Should other family members be screened for heart defects?
Common questions about Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
What is Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome?
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome is an extremely rare genetic condition that affects the heart and hands. The name describes its three main features. A patent ductus arteriosus (PDA) is a heart defect present at birth where a blood vessel called the ductus arteriosus, which normally closes shortly after birth, stays open. This can cause abnormal blood flow between the two major arteries leaving the heart. A bicuspid aortic valve means the aortic valve has two flaps instead of the normal three, which can affect how well the valve opens and closes. Hand anom
How is Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome inherited?
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome typically begin?
Typical onset of Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome is neonatal. Age of onset can vary across affected individuals.
What treatment and support options exist for Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome?
1 patient support program are currently tracked on UniteRare for Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome. See the treatments and support programs sections for copay assistance, eligibility, and contact details.