Meckel-Gruber Syndrome (MKS) is a rare and severe genetic disorder characterized by a combination of developmental abnormalities affecting various organ systems. It is classified as a ciliopathy, a group of disorders caused by dysfunctional cilia, which are hair-like structures found on the surface of cells.

MKS presents with a range of features that may include:

• Central nervous system malformations
• Cystic kidney disease
• Liver fibrosis
• Polydactyly (extra fingers or toes)
• Microcephaly (abnormally small head size)
• Facial anomalies
• Abnormalities of the respiratory and cardiovascular systems

MKS is primarily caused by mutations in certain genes involved in cilia formation and function, including TMEM216, TMEM67, and CEP290. These mutations disrupt normal cilia structure and impair their essential functions, leading to the characteristic features and complications of MKS.

MKS follows an autosomal recessive pattern of inheritance, which means that individuals with MKS have inherited two mutated copies of the causative gene, one from each parent who are typically unaffected carriers.

The diagnosis of MKS is often made through ultrasound examination during pregnancy. Genetic testing can confirm the presence of specific gene mutations, aiding in accurate diagnosis.

There is currently no cure for MKS. Treatment focuses on managing symptoms and providing supportive care. If diagnosed during pregnancy, families may opt for counseling and consider termination due to the severe nature of the condition.