Meckel-Gruber syndrome

Wheway, Gabrielle and Johnson, Colin A. (2013) Meckel-Gruber syndrome. In, Kenny, Thomas D. and Beales, Philip L. (eds.) Ciliopathies: a Reference for Clinicians. Oxford. Oxford University Press. (doi:10.1093/med/9780199658763.003.000).

Abstract

Meckel–Gruber syndrome (MKS) is a rare autosomal recessive condition with an estimated incidence of 1 in 135,000 live births. The incidence is significantly higher in particular endogamous and consanguineous populations. It is considered the most severe ciliopathy since most affected individuals die in utero or within a few hours of birth. The disease has a highly variable multi-organ phenotype, but is generally characterised by the ‘triad’ of polycystic kidneys, occipital encephalocele and polydactyly. Other common features are liver fibrosis, pulmonary hypoplasia, microcephaly, genital malformations and cleft palate. A range of other features are occasionally present. Due to the complex multi-organ phenotype and wide phenotypic variability, diagnosis can be difficult. Prenatal diagnosis is possible using a combination of imaging techniques, α‎-fetoprotein (AFP) testing of amniotic fluid, and DNA testing of foetus and parents for mutations in one of the ten known MKS genes.

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Contributors

Author: Gabrielle Wheway

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