branchiooculofacial syndrome
Findings
No curated finding names branchiooculofacial syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.
Definition from the Mondo Disease Ontology (MONDO:0007235), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
45 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.
- Hearing impairmentHPOHP:0000365
- 5 of 6 reported patients
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Atypical scarring of skinHPOHP:0000987
- Very frequent (80% to 99% of cases)
- ColobomaHPOHP:0000589
- Very frequent (80% to 99% of cases)
- Conductive hearing impairmentHPOHP:0000405
- Very frequent (80% to 99% of cases)
- Deep philtrumHPOHP:0002002
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilion
Show the remaining 33
- MicrophthalmiaHPOHP:0000568
- 4 of 6 reported patients
- Abnormal speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
- DolichocephalyHPOHP:0000268
- Frequent (30% to 79% of cases)
- Fingernail dysplasiaHPOHP:0100798
- Frequent (30% to 79% of cases)
- High palateHPOHP:0000218
- Frequent (30% to 79% of cases)
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.
- TFAP2AHGNC:11742
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
11 names
Resolves to: branchiooculofacial syndrome
- Also called
- Bof syndromeBOFSBOFS syndromebranchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageingbranchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature agingbranchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageingbranchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature AgingBranchio Oculo Facial Syndromebranchio-oculo-facial syndromehemangiomatous branchial clefts-Lip Pseudocleft syndromelip Pseudocleft-Hemangiomatous branchial cyst syndrome