Dionisi Vici Sabetta Gambarara Syndrome

Overview

Type of disease: Rare conditions

Dionisi Vici Sabetta Gambarara Syndrome, or just Vici syndrome, is a rare set of birth defects, or a syndrome. Vici syndrome is characterized by clouding of the eye which affects vision (cataracts), loss of color in the eyes and skin (oculocutaneous hypopigmentation), missing the part of the brain which divides the left and right sides of the brain (agenesis of the corpus callosum), disease of the heart muscle (cardiomyopathy), and deficiency of the immune system (immunodeficiency). Roughly 20 cases of this syndrome have been recorded, and this syndrome is autosomal recessive, meaning an individual must have two copies of the changed gene that causes the condition. A person with one changed gene would be a carrier of the condition but will not have any symptoms. If both parents are carriers, their children have a one in four chance of having the disease. Diagnosis may include: physical exams, brain MRI tests, and immunological studies. Prenatal (before birth) diagnosis is also possible if the family knows they carry the disease causing mutation. Treatment varies on a case-by-case basis and may include genetic counseling, antibiotics to fight infections, and surgery to remove cataracts.

Connect. Empower. Inspire.