What Is Cornelia-de Lange?
As with many other syndromes, individuals with CdLS strongly resemble one another. Typical facial features include thin eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips.
In addition, other characteristics include low birth weight (often under five pounds), slow growth, small stature, and small head size. Furthermore, other features may include excessive body hair and small hands and feet. In most cases, common medical issues include gastro- esophageal reflux disease, heart defects, seizures, feeding difficulties, vision problems, and hearing loss. Additionally, in some cases, Limb differences, including missing arms, forearms or fingers, are seen in about 25 percent of individuals with CdLS. Behavioral and communication issues and developmental delays often exist.