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What is Branchio-Oculo-Facial Syndrome?

What is Branchio-Oculo-Facial Syndrome?

  • Branchio-Oculo-Facial Syndrome: A rare genetic disorder characterized by branchial defects, lacrimal duct obstruction and pseudocleft of upper lip.

Branchio-Oculo-Facial Syndrome is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Branchio-Oculo-Facial Syndrome, or a subtype of Branchio-Oculo-Facial Syndrome, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Branchio-Oculo-Facial Syndrome as a "rare disease".
Source - Orphanet

Branchio-Oculo-Facial Syndrome: Introduction

Types of Branchio-Oculo-Facial Syndrome:

Broader types of Branchio-Oculo-Facial Syndrome:

What causes Branchio-Oculo-Facial Syndrome?

Causes of Branchio-Oculo-Facial Syndrome: see causes of Branchio-Oculo-Facial Syndrome

What are the symptoms of Branchio-Oculo-Facial Syndrome?

Symptoms of Branchio-Oculo-Facial Syndrome: see symptoms of Branchio-Oculo-Facial Syndrome

Branchio-Oculo-Facial Syndrome: Testing

Diagnostic testing: see tests for Branchio-Oculo-Facial Syndrome.

Misdiagnosis: see misdiagnosis and Branchio-Oculo-Facial Syndrome.

How is it treated?

Doctors and Medical Specialists for Branchio-Oculo-Facial Syndrome: Medical Geneticist ; see also doctors and medical specialists for Branchio-Oculo-Facial Syndrome.
Treatments for Branchio-Oculo-Facial Syndrome: see treatments for Branchio-Oculo-Facial Syndrome

Name and Aliases of Branchio-Oculo-Facial Syndrome

Main name of condition: Branchio-Oculo-Facial Syndrome

Other names or spellings for Branchio-Oculo-Facial Syndrome:

BOFS, hemangiomatous branchial cleft-lip pseudocleft syndrome, imperforate nasolacrimal Duct and premature aging syndrome, lip pseudocleft-hemangiomatous branchial cyst syndrome

Hemangiomatous branchial clefts-lip pseudocleft syndrome, Lip pseudocleft-hemangiomatous branchial cyst syndrome, Lee Root Fenske syndrome, BOF syndrome, Branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Branchio-Oculo-Facial Syndrome: Related Conditions

Research the causes of these diseases that are similar to, or related to, Branchio-Oculo-Facial Syndrome:


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