Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that is characterized by prenatal and postnatal growth retardation, facial abnormalities, cognitive deficits or mental retardation, and developmental delays. In the United States, the disorder occurs in approximately 1 in 10,000 births and appears to affect males and females equally. Recurrence within affected families appears to be estimated at less than 1% (National Organization for Rare Disorders [NORD], 2000). Physical characteristics and symptoms vary in severity and presentation from case to case.
An autosomal dominant disorder marked by mental retardation, facial and limb anomalies, deafness, short stature, failure to thrive, and hirsutism. Affected children may have behavioral problems, including difficulty sleeping, hyperactivity, and a tendency to mutilate themselves.