Other Names for this Disease
- Immunodeficiency with cleft lip/palate, cataract, hypopigmentation and absent corpus callosum
- Absent corpus callosum cataract immunodeficiency
- Dionisi Vici Sabetta Gambarara syndrome
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corpus callosum, cataracts , hypopigmentation of the eyes and hair, cardiomyopathy, and combined immunodeficiency. Hearing loss, seizures, and delayed motor development have also been reported. Swallowing and feeding difficulties early on may result in a failure to thrive. Recurrent infections of the respiratory, gastrointestinal, and urinary tracts are common. Vici syndrome is caused by mutations in the EPG5 gene and is inherited in an autosomal recessive manner. Treatment is mainly supportive.Vici syndrome is a multisystem disorder characterized by agenesis (failure to develop) of the
Last updated: 5/18/2015
- Heinz Jungbluth. Vici Syndrome. Orphanet. May, 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1493. Accessed 5/18/2015.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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