About branchiooculofacial syndrome

What is branchiooculofacial syndrome?

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.

What are the symptoms for branchiooculofacial syndrome?

Low birth weight symptom was found in the branchiooculofacial syndrome condition

Infants with BOFS may have a Low birth weight and may continue to experience abnormally slow growth after birth (postnatal growth retardation).

“B” refers to “branchial” skin defects, although a more accurate term is pharyngeal. The skin defects are not true hemangiomas, but unfortunately, the description as hemangiomatous has persisted. They are usually dark pink or red, may be moist, weep, or have atrophic skin. They vary in size from small defects as small as a “pit” to larger Lesions which require resection and reconstructive surgery. They should not be treated with simple cauterization. Many are linear along both sides of the neck. Less commonly, they occur below or behind the ear.

“O” refers to various ocular (eye) anomalies especially microphthalmia (small eyes), ptosis, strabismus, and cataracts. Blockage of the tear ducts (lacrimal duct obstruction) is common. The eyes are typically widely spaced.

“F” refers to individual facial defects, which together create the impression of a recognizable facial appearance. The oral cleft can be incomplete or partial, the so-called pseudocleft lip. The philtrum is unusually wide and a ridge gives the impression it had been surgically repaired, or “healed” in utero. There is often a severe bilateral Cleft lip and palate. Teeth can be small, absent or malformed. The nose is malformed with a broad bridge and flattened tip. The ears are malformed, typically low-set and posteriorly rotated. Hair may be prematurely grey. Facial asymmetry due to lower facial nerve Weakness can be present.

Anomalies of the thymus, ranging from absence to atypical position, occur. Skin features include subcutaneous cysts of the scalp and elsewhere. In addition to the structural differences, there can be visual impairment, Hearing loss and speech disabilities. Autism spectrum disorder, congenital heart defects, and polydactyly are rare. Although cognitive ability is usually normal, there is no large study of subtler learning and behavior challenges.

What are the causes for branchiooculofacial syndrome?

BOFS is caused by mutations in the TFAP2A gene and follows an autosomal dominant pattern of inheritance.

Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary to cause a particular disease. The abnormal gene can be inherited from either parent or can be the result of a mutated (changed) gene in the affected individual. The risk of passing the abnormal gene from an affected parent to an offspring is 50% for each pregnancy. The risk is the same for males and females.

In 50-60% of individuals with BOFS, the disorder is due to a spontaneous (de novo) genetic mutation that occurs in the egg or sperm cell. In such situations, the disorder is not inherited from the parents. In some families, the parent who has very mild features is diagnosed after the child is recognized to have BOFS.

There is no correlation between the type of gene mutation and the appearance of the person. However, patients who have a chromosome deletion involving TFAP2A have a slightly different appearance.

What are the treatments for branchiooculofacial syndrome?

The care and management of people with BOFS is aimed at the specific signs and symptoms, and should be carried out by a multi-specialty team who are skilled in craniofacial disorders. A medical geneticist usually makes the clinical diagnosis, which is confirmed with molecular testing. Reconstructive surgery is needed to repair facial deformities and obstructed nasal ducts. Importantly, the skin defects should not be treated with simple cauterization. Strabismus (“crossed eyes”) may be corrected by surgery.

In addition, people with BOFS should be managed by an ophthalmologist, otolaryngologist, dentist, and speech therapist. Depending on the person’s issues, there may be a need for a neuropsychologic or developmental evaluation and mental health support.

Genetic counseling is recommended for the patients and their families for reproductive health.

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