Meckel syndrome

Meckel syndrome is a rare, lethal genetic disorder that causes multiple birth defects. People with this condition often have a combination of brain malformations, notably occipital encephalocele, large polycystic kidneys, and extra fingers or toes (polydactyly). These key features define the syndrome, but other body systems can also be affected. In addition to the main features, there may be abnormalities such as cleft lip or palate, heart and genital defects, other central nervous system malformations, liver fibrosis, and problems with bone development. This means that many body parts might be affected in different ways, making it a complex and severe condition.

Common symptoms seen in people with this condition include major brain malformations (especially an occipital encephalocele), large polycystic kidneys, and polydactyly. There may also be additional issues like cleft lip or palate, heart and genital abnormalities, other central nervous system malformations, as well as signs of liver fibrosis and bone dysplasia.

Meckel syndrome is a genetic disorder. It is caused by changes in genes that affect the development of multiple organs in the body. These genetic changes lead to the various malformations seen at birth.

Information about treatment is currently limited for this condition.

The condition is described as lethal, which means that it often leads to a poor outcome. The many severe malformations associated with Meckel syndrome usually result in a very limited life span.

Information about current research and future directions is currently limited for this condition.