Yes, Cornelia de Lange Syndrome (CdLS) is a genetic disorder. However, it is usually not inherited.
While CdLS is caused by changes in genes, these changes (mutations) typically occur spontaneously in the egg or sperm or very early during embryonic development. This means that most individuals with CdLS are the first in their family to have the condition.
Here's a breakdown:
- Genetic, Not Always Inherited: The underlying cause of CdLS is a mutation in one of several genes that play crucial roles in development.
- De Novo Mutations: In the majority of cases, the genetic mutation is de novo, meaning it's a new mutation that arose spontaneously and was not passed down from a parent.
- Rare Inheritance: In some rare instances, CdLS can be inherited from a parent who carries the mutated gene. This could happen if a parent has a mild or mosaic form of CdLS (where some, but not all, of their cells carry the mutation) or if they are a carrier of a balanced translocation involving one of the CdLS-related genes.
In summary: CdLS is a genetic condition caused by mutations in genes, but the vast majority of cases are due to new, spontaneous mutations rather than inheritance.
