Overview
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is an extremely rare condition that affects multiple body systems from birth. It is sometimes referred to by its descriptive name, which highlights the main areas of the body involved. The syndrome combines a heart defect (atrioventricular septal defect, where the walls between the heart chambers do not form properly), blepharophimosis (narrowing of the eye openings), problems with the radius bone in the forearm (which may be underdeveloped or absent), and anal abnormalities (such as an imperforate anus, where the opening of the anus is missing or blocked). Because this condition affects the heart, eyes, limbs, and gastrointestinal tract, it is considered a multi-system disorder. Babies born with this syndrome typically show signs at birth or shortly after. The heart defect can range from mild to severe and may require surgical repair. The limb abnormalities can affect hand and arm function, and the anal defects often need surgical correction soon after birth. Blepharophimosis can affect vision and may also require surgical treatment. Because so few cases have been reported in the medical literature, the full range of symptoms and long-term outcomes are not well understood. Treatment is mainly supportive and surgical, focusing on correcting the individual birth defects. A team of specialists is usually needed to manage the different aspects of this condition.
Also known as:
Key symptoms:
Heart defect with abnormal walls between heart chambersNarrow eye openings (blepharophimosis)Underdeveloped or missing forearm bone (radius)Abnormal or blocked anal openingThumb abnormalities or absent thumbsShort statureFeeding difficulties in infancyPossible kidney abnormalitiesPossible hearing problemsGrowth delays
Clinical phenotype terms (22)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Atrioventricular defect-blepharophimosis-radial and anal defect syndrome.
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Specialists
View all specialists →No specialists are currently listed for Atrioventricular defect-blepharophimosis-radial and anal defect 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 Atrioventricular defect-blepharophimosis-radial and anal defect 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 heart defect, and when will surgery be needed?,What surgeries will be required and in what order?,What is the expected recovery after each surgery?,Will my child need physical or occupational therapy for arm and hand function?,Should we pursue genetic testing, and what might it tell us?,What is the chance of this condition occurring again in future pregnancies?,Are there any support groups or families with similar conditions we can connect with?
Common questions about Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
What is Atrioventricular defect-blepharophimosis-radial and anal defect syndrome?
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is an extremely rare condition that affects multiple body systems from birth. It is sometimes referred to by its descriptive name, which highlights the main areas of the body involved. The syndrome combines a heart defect (atrioventricular septal defect, where the walls between the heart chambers do not form properly), blepharophimosis (narrowing of the eye openings), problems with the radius bone in the forearm (which may be underdeveloped or absent), and anal abnormalities (such as an imperforate anus, where the opening
How is Atrioventricular defect-blepharophimosis-radial and anal defect syndrome inherited?
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Atrioventricular defect-blepharophimosis-radial and anal defect syndrome typically begin?
Typical onset of Atrioventricular defect-blepharophimosis-radial and anal defect syndrome is neonatal. Age of onset can vary across affected individuals.