ORPHA:1297
Branchio-oculo-facial syndrome
Also known as: BOFS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
300
75.5th percentile
Trials
0
Interventional, condition-specific
Researchers
1,140
Distinct authors in sample
Gene link
TFAP2A
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare, dominantly inherited multiple anomalies syndrome characterized by highly variable clinical involving the three main affected systems: branchial (cutaneous) defects, ophthalmic malformations and facial anomalies. Additional features can be present.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0007235
- OMIM:113620
- UMLS:C0376524
Additional Mondo synonyms (11)
BOFS syndrome · Bof syndrome · Branchio Oculo Facial Syndrome · branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing · branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging · branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing · branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging · branchio-oculo-facial syndrome · branchiooculofacial syndrome · hemangiomatous branchial clefts-Lip Pseudocleft syndrome · lip Pseudocleft-Hemangiomatous branchial cyst syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — TFAP2A
- LiteraturePresent
300 matched papers (164 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (TFAP2A).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
300
300 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
300 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
164 in the last 10 years · medium confidence · 75.5th percentile (publications denominator)
Phrase hits: 300 · MeSH hits: 0
Who's working on it?
1,140
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Just W10 papers · 2015Papers in Europe PMC
- 02Lin AE7 papers · 2011
National Birth Defects Center, Franciscan Children's Hospital, Boston, MA 02135.
Papers in Europe PMC - 03Williams T7 papers · 2022
Stowers Institute for Medical Research, Kansas City, Missouri, USA. Department of Medical Neuroscience, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia, Canada. Department of Craniofacial Biology and Cell and Developmental Biology, University of Colorado Anschutz Medical Campus, Aurora, Colorado, USA. Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, Kansas, USA.
Papers in Europe PMC - 04Müller D6 papers · 2010Papers in Europe PMC
- 05Li H4 papers · 2025
Department of Craniofacial Biology, University of Colorado Anschutz Medical Campus, Aurora, United States.
Papers in Europe PMC - 06Milunsky JM4 papers · 2012
Center for Human Genetics, Boston University School of Medicine, Boston, MA 02118-2526, USA. jmilunsk@bu.edu
Papers in Europe PMC - 07Rada-Iglesias A4 papers · 2022
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany; Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany; Institute of Biomedicine and Biotechnology of Cantabria (IBBTEC), University of Cantabria, Cantabria, Spain. Electronic address: aradaigl@uni-koeln.de.
Papers in Europe PMC - 08Van Otterloo E4 papers · 2024
Iowa Institute for Oral Health Research, College of Dentistry & Dental Clinics, University of Iowa, Iowa City, United States.
Papers in Europe PMC - 09Brooks BP3 papers · 2026
From the National Eye Institute (B.P.B., D.B., B.G., and A.S.P.), National Institutes of Health, Bethesda, Maryland, USA. Electronic address: brooksb@nei.nih.gov.
Papers in Europe PMC - 10Cornell RA3 papers · 2024
Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, IA, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Branchio-oculo-facial syndrome" OR "BOFS syndrome" OR "Bof syndrome" OR "Branchio Oculo Facial Syndrome" OR "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing" OR "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" OR "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing" OR "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" OR "branchiooculofacial syndrome" OR "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" OR "lip Pseudocleft-Hemangiomatous branchial cyst syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Branchio-oculo-facial syndrome" OR "BOFS syndrome" OR "Bof syndrome" OR "Branchio Oculo Facial Syndrome" OR "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing" OR "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" OR "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing" OR "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" OR "branchiooculofacial syndrome" OR "hemangiomatous branchial clefts-Lip Pseudocleft syndrome" OR "lip Pseudocleft-Hemangiomatous branchial cyst syndrome" OR "TFAP2A"
Recall-expansion terms: TFAP2A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BOFS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T16:56:00.343Z