Cornelia De Lange Syndrome

The Cornelia de Lange syndrome (CdLS), also termed the Brachmann-de Lange syndrome (BDLS), is a complex dominant developmental disorder that is defined by characteristic facial features, mental and growth retardation, and limb, cardiac, gastrointestinal, audiologic, ophthalmologic, and genito-urinary abnormalities. IQs range from 30 to 86 with an average of 53. Many individuals demonstrate autistic behavior, including self-destructive tendencies, and they may avoid or reject social interactions and physical contact. Mutations in two genes involved in the chromosomal cohesin complex, NIPBL , SMC1A and SMC3 , have been found to be causative of CdLS in over half of cases.