Vici syndrome is a rare, severe, multisystem disorder indicated by cardiomyopathy, corpus callosum agenesis, cataracts, oculocutaneous hypopigmentation, and immune dysfunction. While these are considered the characteristic features of the disease, patients may also suffer from developmental delay, progressive microcephaly, hypotonia, seizures, breathing difficulties, and a failure to thrive. Ophthalmological abnormalities also involve ocular albinism, retinal hypopigmentation, and nystagmus. Facial dysmorphia may include hypertelorism, low set ears, cleft palate, and micrognathia.
The syndrome does not have a racial or gender bias. It is a congenital disorder and symptoms usually present in the first year of life. Prognosis is poor and most patients succumb to the disease in infancy. Diagnosis is based on the presence of the characteristic clinical features. Genetic analysis of the EPG5 gene can help confirm the diagnosis. While there is currently no cure for Vici syndrome, patients require treatment for their individual symptoms. This may include antibiotics for infections, intravenous immunoglobulin replacement for immunodeficiency, and anti-convulsants for seizures.