I’m 8 years old, and I was born with a genetic condition known as Cornelia de Lange syndrome. My family and I are members of the Cornelia de Lange Syndrome Foundation, and we go to gatherings where I get to play with friends. It’s fun to meet the other kids.
Cornelia de Lange syndrome (CdLS) is a genetic disorder present at birth but not always diagnosed at birth. It causes a range of physical, cognitive and medical challenges. It affects both genders and is seen in all races and ethic backgrounds.
The features of this syndrome vary widely among affected individuals and range from relatively mild to severe.
CdLS is estimated to occur in 1 in 10,000 live births.
Typical facial features of individuals with CdLS include thin eyebrows that meet in the middle; long eyelashes; a short, upturned nose; and thin downturned lips.
This syndrome is characterized by slow growth before and after birth, intellectual disability, and skeletal abnormalities.
The syndrome takes its name from the Dutch pediatrician who first identified it in 1933.