Vici syndrome, also called immunodeficiency with cleft lip or palate, cataract, hypopigmentation and absent corpus callosum, is a rare autosomal recessive congenital disorder. It is characterized by albinism, agenesis of the corpus callosum, cataracts, cardiomyopathy, severe psychomotor retardation, seizures, immunodeficiency and recurrent severe infections. About 50 cases have been reported to date, which makes it one of the rarer multisystem genetic syndromes described in the medical literature.
Facts
Classification
Body SystemLymphatic or Immune System 1 ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) Sources
1. Vici syndrome (Wikipedia)
Lead, first paragraph
rare autosomal recessive congenital disorder
Lead, first paragraph [body-system]
agenesis of the corpus callosum
Lead, first paragraph [body-system 2]
cataracts
Lead, first paragraph [body-system 3]
cardiomyopathy
Lead, first paragraph [body-system 4]
immunodeficiency and recurrent severe infections
Lead: disease category
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.
View the Source2. World Health Organization ICD-10: ICD-10 Version:2019 - Q80-Q89
World Health Organization ICD-10Category Q87.8Quote, Category Q87.8
Q87.8 Other specified congenital malformation syndromes,
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