Living with Branchiooculofacial syndrome
A genetic condition affecting development of the face and neck, with skin patches, eye and ear differences, and facial clefts.
Understanding Branchiooculofacial syndrome
It causes skin differences on the neck, eye and ear differences, and distinct facial features. Skin patches near the neck or ears can be thin, hairy, or red. Eye differences can affect vision, including small eyeballs, a gap in eye structures (coloboma), and blocked tear ducts. Many have cleft lip or a pseudocleft lip, with or without cleft palate.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Skin patches or scars on the neck or near the ears
- Eye differences such as coloboma
- Blocked tear ducts
- Hearing loss (conductive)
- Cleft lip or pseudocleft lip
- Missing or small teeth
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 ear, nose, and throat specialists and genetic specialists.
- 3Consider genetic testing
Changes in TFAP2A are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- 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 FACES: The National Craniofacial Association 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 TFAP2A gene cause this condition. It is autosomal dominant, so one changed copy of the gene is enough.
Also known as: bof syndrome; bofs; bofs 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
Patient organizations
- FACES: The National Craniofacial AssociationBranchiooculofacial syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Branchiooculofacial syndrome.
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