Zachary, diagnosed at 5 monthsRayven, diagnosed at 1 yearAnthony, diagnosed at 3 years

The University of Chicago offers genetic testing of NIPBL and SMC1A, which are causes of Cornelia de Lange Syndrome. They work very closely with The Cornelia de Lange Syndrome Foundation to help families find the correct diagnosis.

Zachary (top) was diagnosed at 5 months of age, Rayven (center) was diagnosed at 1 year of age, and Anthony (bottom) was diagnosed at 3 years.  For Zachary, Rayven, and Anthony, their stories begin with a diagnosis of Cornelia de Lange Syndrome (CdLS). Though not the storyline their parents expected, diagnosis helps these children and their families get appropriate medical and educational interventions as they go through each chapter of their lives.

But not all stories begin this way. CdLS remains undiagnosed in thousands of children. That’s because CdLS is not a “one-size-fits-all” genetic condition. While many children have the classic signs—small size, eyebrows that meet, thin upper lip, long eyelashes, missing arms or fingers—others are so mildly affected, the condition goes unnoticed.

Help change a child’s story by learning more about CdLS.

Download a diagnostic checklist or request your free checklist notepad by mail.