Cornelia De Lange Syndrome

Cornelia de Lange Syndrome can also include cardiovascular concerns. Congenital heart disease occurs in approximately 25% of individuals with the disorder. The most common is ventricular septal defects, followed by atrial septal defects, pulmonary stenosis, and tetralogy of
Fallot (3). Kidney problems, including renal dysplasia, pelvic dilation and vesiculoureteral reflux, can also occur (4). Abnormalities of the genitalia are common; cryptorchidism
(undescended testicles) is reported in approximately 73% of males and small genitalia in 57%
(3). However, puberty is typically normal or slightly delayed, and fertility is not affected in milder cases of CdLS (4).