Meckel-Gruber syndrome (MKS) is an autosomal recessive disorder that typically results in severe birth defects affecting multiple organ systems. It is often associated with the following features:
Cystic kidneys: The kidneys develop cysts, leading to renal dysfunction.
Central nervous system malformations: This includes conditions such as occipital encephalocele, where brain tissue protrudes through an opening in the skull.
Polydactyly: The presence of extra fingers or toes.
Other anomalies: These may include liver developmental defects and pulmonary hypoplasia due to reduced amniotic fluid (oligohydramnios).
Causes and Genetics
Meckel-Gruber syndrome is caused by mutations in several genes, with MKS1 and MKS3 being the most commonly associated. The condition is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated gene for a child to be affected. The prognosis for infants born with this syndrome is generally poor, with most not surviving beyond a few days to weeks after birth.
Conclusion
Due to its severe nature and the complexity of the associated anomalies, Meckel-Gruber syndrome poses significant challenges for affected families. Genetic counselling is often recommended for families with a history of the syndrome to understand the risks in future pregnancies