Meckel- Gruber- syndrome Q61.7

MGS is a malformation complex, also known as dysencephalia splanchnocystica (Entezami 2002).

The malformation occurs in ethnically very different degrees (Entezami 2002):

• Belgium 1: 3,000
• Gujarat- Indians: 1: 1.300
• Massachusetts 1: 13.250
• Finland 1: 8,500
• Ashkenazi Jews 1: 50.000
• Great Britain 1: 140,000

Sporadically occurring or autosomal recessive inheritance on gene loci of chromosomes 17q23, 11q13 and 8q24 (Korinthenberg 2009).

^{MGS is associated with CNS anomalies, polydactyly (Beetz 2013) cleft jaw (Keller 2010) and cystic kidney dysplasia (Entezami 2002).}

The diagnosis can usually be made prenatally by sonography due to numerous malformations such as:

• Oligo- or anhydramnios due to impaired renal function
• encephalocele in up to 80% of cases
• microcephaly or anencephaly
• cerebellar hypoplasia
• cystic kidney dysplasia in 95% of cases
• facial dysmorphia
• cardiac vitias
• anomalies of the genitals (Entezami 2002)

Approximately 1 / 3 of those affected are stillborn, and the remaining infants die within the first 3 h postpartum (Entezami 2002).