Vici syndrome

Vici syndrome is a very rare and severe congenital multisystem disorder that affects many parts of the body. It is mainly known for causing developmental problems in the brain, eyes, skin, heart, and immune system. In particular, the condition is characterized by the absence of the corpus callosum, which is a key structure connecting the two sides of the brain, along with other issues like cataracts, low pigment in the eyes and skin, heart muscle problems, and a weakened immune system. Although information is limited, the overall picture of Vici syndrome underscores its complexity due to the involvement of multiple organ systems. This complexity makes the condition challenging in many aspects of care and management. The rarity and severity of the syndrome also highlight the need for further study and understanding.

People with Vici syndrome usually show a range of symptoms. They may have an absent corpus callosum, which affects brain connectivity. Common features also include cataracts in the eyes, reduced pigmentation in the skin and eyes, heart muscle problems (cardiomyopathy), and a combined immunodeficiency, meaning the immune system does not work properly to fight infections.

Vici syndrome is linked to changes in a gene called EPG5. This gene plays a role in how cells break down and recycle parts of themselves. When there is a mutation in the EPG5 gene, it can disrupt these processes and lead to the multisystem features seen in the condition. The disorder is congenital, meaning it is present from birth.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.