Is CdLS hereditary?

Is CdLS hereditary?
Not in the usual sense of a gene passing directly from parent to child. Genetic changes (called mutations) occur in individuals with CdLS that typically are not present in their parents, meaning that a new change developed in those individuals resulting in CdLS.

In a few rare families who have more than one child with the syndrome, each of the children with CdLS has had the same mutation, which has not been found in any unaffected family members. This gene is almost never passed on to the next generation because affected individuals seldom have children of their own. There are tests which may help resolve some of the uncertainty felt by CdLS families with future pregnancies. Genetic counseling centers are able to provide current information on testing.

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