Vici Syndrome

Alternative Names

  • VICIS
  • Immunodeficiency with Cleft Lip/Palate, Cataract, Hypopigmenation, and Absent Corpus Callosum
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

242840

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q12.3-q21.1

Description

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.  

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
242840.1Saudi ArabiaYesYes Agenesis of corpus callosum; Cataract; ...NM_020964.3:c.4751T>AHomozygousAutosomal, RecessiveByrne et al. 2016 Patient had 2 simila...
242840.2United Arab EmiratesNoYes Agenesis of corpus callosum; Cataract;...NM_020964.3:c.4783C>THomozygousAutosomal, RecessiveByrne et al. 2016
242840.3EgyptYesYes Agenesis of corpus callosum; Cataract ;...NM_020964.3:c.2355delHomozygousAutosomal, RecessiveByrne et al. 2016 The patient had 3 si...
242840.4.1PalestineYesYes Agenesis of corpus callosum; Cataract ;...NM_020964.3:c.5993C>GHomozygousAutosomal, RecessiveByrne et al. 2016 The patient had an a...
242840.4.2PalestineYesYes Agenesis of corpus callosum; Cataract ;...NM_020964.3:c.5993C>GHomozygousAutosomal, RecessiveByrne et al. 2016 Sibling of 242840.4....
242840.5United Arab EmiratesNoYes Agenesis of corpus callosum; Cataract;...NM_020964.3:c.1249C>THomozygousAutosomal, RecessiveByrne et al. 2016
242840.6OmanYesYes Agenesis of corpus callosum; Cataract; ...NM_020964.3:c.6084G>AHomozygousAutosomal, RecessiveByrne et al. 2016 The patient has a si...
242840.7Saudi ArabiaNoYes Agenesis of corpus callosum; Cataract;...NM_020964.3:c.3693G>AHomozygousAutosomal, RecessiveByrne et al. 2016 The patient had 2 si...
242840.8.1PalestineYesYes Agenesis of corpus callosum; Pallor ; ...NM_020964.3:c.3447G>AHomozygousAutosomal, RecessiveByrne et al. 2016
242840.8.2PalestineYesYes Agenesis of corpus callosum; Cataract;...NM_020964.3:c.3447G>AHomozygousAutosomal, RecessiveByrne et al. 2016 Cousin of 242840.8.1
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