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Use the form below to explore NORD's comprehensive rare disease database. Search for detailed information on rare diseases, including NORD's authoritative Rare Disease Reports and data from other reliable sources.
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branchiooculofacial syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

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.

Synonyms

  • BOFS
  • 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
GARD Disease Summary

The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).

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Orphanet

Orphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.

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OMIM

Online Mendelian Inheritance In Man (OMIM) has a summary of published research about this condition and includes references from the medical literature. The summary contains medical and scientific terms, so we encourage you to share and discuss this information with your doctor. OMIM is authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine.

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