Vici syndrome
Vici syndrome, also called immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum (or absent corpus callosum cataract immunodeficiency), is a rare autosomal recessive congenital disorder characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. To date, about 50 cases have been reported. Presentation This syndrome consists of a number of typical features. These include Agenesis of the corpus callosum (80–99% patients) Hypopigmentation of the eyes and hair (80–99% patients) Cardiomyopathy (80–99% patients) Combined immunodeficiency (80–99% patients) Muscular hypotonia (80–99% patients) Abnormality of retinal pigmentation (80–99% patients) Recurrent chest infections (80–99% patients) Abnormal EEG (80–99% patients) Intellectual disability (80–99% patients) Cataracts (75%) Seizures (65%) Renal abnormalities (15%) Infections of the gastrointestinal and urinary tracts are common. Swallowing and feeding difficulties early on may result in a failure to thrive. Optic nerve hypoplasia, nystagmus and photophobia may occur. Facial dysmorphism (cleft lip/palate and micrognathia) and syndactyly may be present. Sensorineural hearing loss may also be present. Death in infancy is not uncommon and is usually due to cardiac complications or severe infections. Genetics Inheritance Vici syndrome is inherited in an autosomal recessive manner. This means the defective gene responsible for