Meckel-gruber syndrome

Adetola F. Louis-Jacques, Anthony O. Odibo, Rachael J. Bradshaw

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

2 Scopus citations


Meckel-Gruber syndrome is a severe ciliopathy first described in 1822. The worldwide incidence ranges from 1:1300 in Gujarati Indians to 1:140, 000 in England. Twelve genetic mutations are associated with Meckel-Gruber syndrome (designated MKS1 through MKS12). In all cases, this disorder has shown autosomal recessive inheritance. The diagnosis of Meckel-Gruber syndrome is typically made by prenatal ultrasound examination in the first or second trimester. Meckel-Gruber syndrome is considered in an individual with a normal karyotype who has at least two of the three classic features: occipital encephalocele; large, polycystic kidneys; and postaxial polydactyly. Most affected individuals die in utero or mothers elect for termination of pregnancy. The postnatal mortality is 100% for individuals who survive to birth, with the longest survivor dying at 28 months. The major causes of death are pulmonary hypoplasia from oligohydramnios and liver disease.

Original languageEnglish
Title of host publicationObstetric Imaging
Subtitle of host publicationFetal Diagnosis and Care, 2nd Edition
ISBN (Electronic)9780323445481
StatePublished - Jan 1 2017


  • Dysencephalia
  • Gruber syndrome
  • Meckel syndrome
  • Meckel-gruber syndrome
  • Splanchnocystica


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