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Meckel syndrome, type 8

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Description

Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Clinical heterogeneity exists even within families (summary by Shaheen et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of Meckel syndrome, see MKS1 (249000).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

80

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Genes

External Links

  • OMIM

    613885

  • Orphanet
  • HPO
  • Medgen

    C3836857

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