Cystic Kidney Disease with Ventriculomegaly

Alternative Names

VMCKD

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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

219730

Mode of Inheritance

Autosomal recessive

Gene Map Locus

9q33.3

Description

Cystic Kidney Disease with ventriculomegaly is an extremely rare and lethal congenital disorder. It has an in utero onset and is characterized by the presence of fluid filled sacs in the kidney associated with dilatation of the lateral ventricles of the brain. Hydrocephaly and polydactyly may also be seen.

Indicating clinical significance, mutations in CRB2 gene has been identified in fetuses with cerebral ventriculomegaly with cystic kidney disease.

Epidemiology in the Arab World

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Oman

Other Reports

Oman

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period at Nizwa hospital. Of the 21,988 total births in the hospital, two children were born with cystic kidney disease and ventriculomegaly. Sawardekar (2005) hinted for a possible genetic contribution in these children.

External Links

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=443988

Contributors

Ghazi O. Tadmouri: 27.02.2008
Pratibha Nair: 20.02.2008

Edit History

Sami Bizzari: 23.11.2022
Asha Deepthi: 17.11.2019
Tasneem Obeid: 28.02.2008