Meckel syndrome, type 1

Meckel syndrome, type 1 is a rare genetic disorder that is caused by mutations in the MKS1 gene. It is also known by several other names including MKS1, Meckel-Gruber syndrome, and Dysencephalia Splanchnocystica. This condition is part of a group of diseases where genetic mutations affect the normal development of organs and tissues. Because this syndrome is linked to a specific gene, it is classified as a genetic disorder. Information available about the syndrome emphasizes the importance of genetic evaluation when the condition is suspected, although details on the full range of symptoms and complications may vary.

Information about symptoms is currently limited for this condition.

Meckel syndrome, type 1 is caused by mutations in the MKS1 gene. This genetic change leads to errors in the development of certain tissues and organs during early growth. Genetic factors play a key role in this condition, and research has shown that the mutation in the MKS1 gene is responsible for the syndrome.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.