Branchio-oculo-facial syndrome Branchio-oculo-facial syndrome Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. Symptoms of this condition include skin abnormalities on the neck, deformities of the ears and eyes, and other distinctive facial features such a cleft lip along with slow growth, mental retardation and premature graying of hair. "Branchio" refers to the branchial arches, also known as the pharyngeal arches, of the affected individual. The branchial arches are structures in the developing embryo that give rise to certain tissues
Immunodeficiency–centromeric instability–facial anomalies syndrome Immunodeficiency–centromeric instability–facial anomalies syndrome ICF syndrome (or Immunodeficiency, Centromere instability and Facial anomalies syndrome) is a very rare autosomal recessive immune disorder. It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia. ICF syndrome can be caused by a mutation in the DNA-methyltransferase-3b ("Dnmt3b") gene, located on chromosome 20q11.2. The disease is inherited in an autosomal recessive manner. For ICF patients the most diffused therapy consists of repeated intravenous infusions of immunoglobulins for