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Branchio Oculo Facial Syndrome

Abstract

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Synonyms of Branchio Oculo Facial Syndrome

  • BOFS
  • Branchiooculofacial Syndrome
  • Hemangiomatous Branchial Clefts-Lip Pseudocleft Syndrome
  • Imperforate Nasolacrimal Duct, and Premature Aging Syndrome
  • Lip Pseudocleft-hemangiomatous Branchial Cyst Syndrome

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Branchio-oculo-facial syndrome (BOFS) is a very rare genetic disorder that is apparent at birth (congenital). As of 2004, only about 50 cases of BOFS had been reported in the medical literature. The symptoms of most BOFS patients include the proliferation of blood vessels (hemangiomatous) in the lower neck or upper chest, low birth weight, retarded growth and some mental retardation. BOFS is characterized by the presence of a pseudocleft of the upper lip resembling a poorly repaired cleft lip, a malformed nose with a broad bridge and flattened tip, blockage of the tear ducts (lacrimal duct obstruction), malformed ears, lumps in the area of the neck or collarbone (branchial cleft sinuses) and/or linear skin lesions behind the ears. Often, affected individuals may have burn-like lesions behind the ears. However, even among the cases so far reported, the symptoms may vary from mild to severe forms. The disorder is inherited as an autosomal dominant trait.

Organizations related to Branchio Oculo Facial Syndrome

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