The cause of the syndrome is a genetic mutation of a single gene according to an autosomal dominant segregation. Recent researches demonstrates that a variable percentage of people with CDLS (between 30 and 50%) has different mutation of NIPBL gene.

The gene, localized on the short arm of chromosome 5 (5p13.1) is very big (46 exons) and doesn’t show any mutational hot spot.

Because of the very recent discovery of the gene the real detection rate and the possible correlation between genotype and phenotype are still in progress.

According these information it’s possible to hypotize the following programe for the clinical follow-up of a person with CdlS.