Essential
It is possible that the primary title of the record Branchio Oculo Facial Disorder is not the name you anticipated. Kindly inspect the synonyms providing to locate the alternative name(s) and problem subdivision(s) covered by this report.
Words
- BOFS
- Branchiooculofacial Syndrome
- Hemangiomatous Branchial Clefts-Lip Pseudocleft Disorder
- Imperforate Nasolacrimal Duct, as well as Premature Growing old Disorder
- Lip Pseudocleft-hemangiomatous Branchial Cyst Disorder
Disorder Class
- None
General Conversation
Branchio-oculo-facial syndrome (BOFS) is a really unusual genetic disorder that appears at birth (genetic). Since 2004, just concerning 50 cases of BOFS had been reported in the medical literary works. The signs of the majority of BOFS individuals consist of the spreading of capillary (hemangiomatous) in the lower neck or top chest, reduced birth weight, hampered growth and also some mental deficiency. BOFS is characterized by the visibility of a pseudocleft of the upper lip appearing like a poorly fixed cleft lip, a malformed nose with a broad link and squashed tip, clog of the tear ducts (lacrimal duct blockage), unshaped ears, swellings in the location of the neck or collarbone (branchial cleft sinuses) and/or linear skin sores behind the ears. Typically, influenced people may have burn-like sores behind the ears. Nevertheless, even among the cases until now reported, the signs could vary from moderate to severe kinds. The problem is inherited as an autosomal leading quality.