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Meckel-Gruber syndrome

Meckel-Gruber syndrome (MGS) is classically characterised by the triad of:

  1. renal cystic dysplasia (multiple renal cysts) (present most cases)
  2. occipital encephalocoele/holoprosencephaly (~70%)
  3. post-axial polydactyly (usually hexadactyly) (~65%)

Additional hepatic developmental defects and hepatic fibrosis may occur. A variety of malformations may be associated with this syndrome but most agree that cystic renal dysplasia must be present with at least one of the other two anomalies in the classic "triad".

Epidemiology

The incidence is estimated to be 1:30000. A disproportionately higher prevalence may be present in Finland, Belgium and in some parts of India. 

This inheritance of this syndrome, autosomal recessive was subsequently reported in 1969 by Poitz and Howe; the risk of the condition affecting a subsequent child is therefore 25% 1.

Pathology

Meckel-Gruber syndrome shares some features with trisomy 13 and is therefore also termed pseudotrisomy 13 1. Karyotyping is recommended if the above triad is seen on antenatal scanning.

Genetics and inheritance 

It is inherited as an autosomal recessive fashion. There is genetic heterogeneity with at least tthree genes (MKS1, MKS2  and MKS3) having been identified 4,7.

  • MKS1: on chromosome 17q
  • MKS2: on chromosome 11q
  • MKS3: on chromomsome 8q or 13 q
Associations
Central nervous system/cranio-facial
Cardiac/vascular malformations
Musculoskeletal 
Markers

Radiographic features

Antenatal ultrasound

In addition to demonstration of the classical features such as an occipital encephalocoele, multiple renal cysts and polydactyly, there may be evidence of oligohydramnios (or anhydramnios in severe cases) and microcephaly). 

In utero (and early neonatal life) multicystic renal disease is usually evident as enlarged echogenic kidneys: demonstration of physical cysts within the kidneys only occurs in the minority of cases.

Prognosis

The condition is almost always fatal at birth either because of pulmonary hypoplasia or neonatal renal failure 3,5. Parents can be counseled appropriately about the subsequent risk being 25%. 

History and etymology

It is named after:

  • Johann Friedrich Meckel (1781-1833) German anatomist (also known for Meckel diverticulum)
  • Georg Gruber (1884-1977) German physician: who termed it dysencephalia spanchnocystica

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