Overview
BNAR syndrome, also known as Blepharophimosis-Nystagmus-Anal atresia-Radial defect syndrome, is an extremely rare genetic condition that affects multiple body systems from birth. The name comes from the combination of its main features: blepharophimosis (narrowing of the eye openings), nystagmus (involuntary eye movements), anal atresia (the anal opening is closed or absent at birth), and radial defects (problems with the radius bone in the forearm and sometimes the thumb). Because this syndrome involves several different parts of the body, affected children may need care from many different specialists starting in the newborn period. Babies born with BNAR syndrome typically need surgical correction of the anal atresia shortly after birth, as this is a life-threatening condition if not treated. The eye abnormalities can affect vision and may require surgical or supportive treatment. The limb abnormalities involving the radius bone and thumb can range from mild to severe and may affect hand function. Because so few cases have been described in the medical literature, the full range of symptoms and the best treatment approaches are still being understood. There is currently no cure for BNAR syndrome, and treatment focuses on managing each individual symptom through surgery, therapy, and supportive care.
Also known as:
Key symptoms:
Narrow eye openings (blepharophimosis)Involuntary eye movements (nystagmus)Absent or closed anal opening at birth (anal atresia)Underdeveloped or missing forearm bone (radial defect)Thumb abnormalities, including absent or underdeveloped thumbVision problemsPossible feeding difficulties in infancyPossible growth delaysLimb length differencesReduced hand grip or hand function
Clinical phenotype terms (7)— 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 BNAR syndrome.
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Specialists
View all specialists →No specialists are currently listed for BNAR 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 BNAR 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.What is the full extent of my child's radial and thumb abnormalities, and what surgeries might be needed?,How will the nystagmus and narrow eye openings affect my child's vision long-term?,What bowel management plan should we follow after the anal atresia repair?,Should we pursue genetic testing, and what might it tell us about recurrence risk for future children?,What therapies (occupational, physical) should we start, and how often?,Are there any other organ systems we should screen for problems?,Can you connect us with other families or support groups for children with similar conditions?
Common questions about BNAR syndrome
What is BNAR syndrome?
BNAR syndrome, also known as Blepharophimosis-Nystagmus-Anal atresia-Radial defect syndrome, is an extremely rare genetic condition that affects multiple body systems from birth. The name comes from the combination of its main features: blepharophimosis (narrowing of the eye openings), nystagmus (involuntary eye movements), anal atresia (the anal opening is closed or absent at birth), and radial defects (problems with the radius bone in the forearm and sometimes the thumb). Because this syndrome involves several different parts of the body, affected children may need care from many different s
How is BNAR syndrome inherited?
BNAR syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does BNAR syndrome typically begin?
Typical onset of BNAR syndrome is neonatal. Age of onset can vary across affected individuals.