Síndroma Cornelia de Lange e Disgenesia Cerebral

background: cornelia de lange syndrome (cdls) is a rare multiple malformation syndrome, characterized by specific facial features, small stature, developmental delay and major malformations (cardiac, gastrointestinal and musculoskeletal systems). case report: the authors describe a clinical case of a six-month-old female toddler, with severe cdls and congenital cerebral dysgenesis, in whom no nipbl mutation was found. nowadays, at the age of three and half years, this patient maintains a multidisciplinary approach and has a favourable evolution of her motor status (posture and manipulation). discussion: the diagnosis of cdls is based in mostly on clinical grounds. molecular confirmation can be helpful in atypical cases, but since mutations in the nipbl gene are found in only around 50% of patients, failure to identify mutations does not exclude the diagnosis. an early diagnosis is important to program anticipatory surveillance for the most frequent complications of this condition and to provide adequate genetic counseling.