Living with BNAR syndrome
A very rare genetic syndrome with a split nose and differences in the anus and kidneys.
Understanding BNAR syndrome
It can be noticed during pregnancy and in newborns. The nose is divided, with a bulbous tip. Some people have an anus that sits further forward or is narrowed, and a missing kidney on one or both sides. There is no intellectual disability. It is related to Fraser syndrome and oculotrichoanal syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Split nose (bifid nose)
- Kidney missing on one or both sides
- Anus placed further forward than usual
- Narrowed anal opening
- Differences in the little toe
- Short tissue under the tongue
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists, ear, nose, and throat specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in FREM1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Pull-thru Network and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FREM1 gene cause this condition. It is autosomal recessive, which means a child inherits a changed copy of the gene from each parent.
Also known as: bifid nose with or without anorectal and renal anomalies; bifid nose, anorectal anomaly, renal anomaly syndrome; bnar (bifid nose, anorectal anomaly, renal anomaly) syndrome
Patient organizations
- Pull-thru NetworkBNAR syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with BNAR syndrome.
Explore research for BNAR syndrome
Explore actively recruiting BNAR syndrome studies with HealthSpark.
Find actively recruiting studies for BNAR syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting BNAR syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for BNAR syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your BNAR syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.