What is Meckel Syndrome

Meckel Syndrome is a rare and severe genetic disorder that affects multiple organ systems in the body. It is characterized by a combination of developmental abnormalities, primarily affecting the brain, kidneys, and liver.

Brain abnormalities: Individuals with Meckel Syndrome often have a condition called encephalocele, where a portion of the brain protrudes through an opening in the skull. This can lead to intellectual disability and various neurological problems.

Kidney abnormalities: Meckel Syndrome causes cystic kidneys, where fluid-filled sacs develop in the kidneys. This can lead to kidney failure and the need for dialysis or transplantation.

Liver abnormalities: Affected individuals may have liver fibrosis or cysts, which can impair liver function and cause complications.

Other features of Meckel Syndrome may include facial abnormalities, polydactyly (extra fingers or toes), and abnormalities of the skeletal system. The severity of the condition can vary, with some cases being incompatible with life.

Meckel Syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a mutated gene for their child to be affected. Genetic counseling and prenatal testing are important for families with a history of Meckel Syndrome.