Meckel Syndrome, Type 3

Alternative Names

  • MKS3
  • Meckel-Gruber Syndrome, Type 3
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

OMIM Number

607361

Mode of Inheritance

Autosomal Recessive

Gene Map Locus

8q22.1

Description

Meckel syndrome is a rare autosomal recessive lethal condition characterized by central nervous system malformations (typically occipital meningoencephalocele), postaxial polydactyly, multicystic kidney dysplasia and ductal proliferation in the portal area of the liver.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
607361.3MoroccoNo Polydactyly; Renal cyst; Microceph...NM_153704.5:c.2439G>A, NM_153704.5:c.1336G>CHeterozygousAutosomal, RecessiveKhaddour et al. 2007 Patient is compound ...
607361.4.1PalestineMaleYes Renal cyst; Occipital encephalocele; ...NM_153704.5:c.1065+1delGHomozygousAutosomal, RecessiveKhaddour et al. 2007 The proband had an a...
607361.6.1OmanUnknownYes Occipital encephalocele; Dandy-walker ...NM_153704.5:c.383_384delACHomozygousAutosomal, RecessiveSmith et al. 2006
607361.7.1Saudi ArabiaUnknownYesYes Stillbirth; Renal cyst; Aplasia/Hypopl...NM_153704.5:c.1413-2A>GHomozygousAutosomal, RecessiveAl-Hamed et al. 2016
607361.7.2Saudi ArabiaUnknownYesYesNM_153704.5:c.1413-2A>GHomozygousAutosomal, RecessiveAl-Hamed et al. 2016 Affected sibling of ...
607361.7.3Saudi ArabiaUnknownYesYesNM_153704.5:c.1413-2A>GHomozygousAutosomal, RecessiveAl-Hamed et al. 2016 Affected sibling of ...
607361.8.1Saudi ArabiaUnknownNoYes Stillbirth; Renal cyst; Dolichocephaly...NM_153704.6:c.457T>GHomozygousAutosomal, RecessiveAl-Hamed et al. 2016
607361.10.1Saudi ArabiaNoYes Renal cyst; Occipital encephalocele; ...NM_153704.6:c.2306delHomozygousAutosomal, RecessiveShaheen et al. 2013
607361.12ArabMaleYes Microcephaly; Occipital encephalocele; P...NM_153704.6:c.2306delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
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