BNAR syndrome
Findings
No curated finding names BNAR syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
BNAR syndrome is a very rare multiple congenital anomaly syndrome characterized by a bifid nose (with bulbous nasal tip but not associated with hypertelorism) with or without the presence of anal defects (i.e. anteriorly placed anus, rectal stenosis or atresia) and renal dysplasia (unilateral or bilateral renal agenesis) and without intellectual disability. BNAR syndrome is phenotypically related to Fraser syndrome and oculotrichoanal syndrome.
Definition from the Mondo Disease Ontology (MONDO:0012165), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Bifid noseHPOHP:0011803
- 11 of 11 reported patients
- Obligate (100% of cases)
- Short lingual frenulumHPOHP:0000200
- 11 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal fifth toe morphologyHPOHP:0010322
- Very frequent (80% to 99% of cases)
- Anal stenosisHPOHP:0002025
- Very frequent (80% to 99% of cases)
- Anteriorly placed anusHPOHP:0001545
- Very frequent (80% to 99% of cases)
- Renal agenesisHPOHP:0000104
- 6 of 9 reported patients
- Frequent (30% to 79% of cases)
Show the remaining 6
- Precocious pubertyHPOHP:0000826
- 1 of 2 reported patients
- Thick eyebrowHPOHP:0000574
- 1 of 2 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 1 of 2 reported patients
- Widely-spaced maxillary central incisorsHPOHP:0001566
- 1 of 2 reported patients
- Abnormal respiratory system morphologyHPOHP:0012252
- Occasional (5% to 29% of cases)
- Bulbous noseHPOHP:0000414
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FREM1HGNC:23399
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: BNAR syndrome
- Also called
- bifid nose with or without anorectal and renal anomalies