Cornelia De Lange Syndrome
Which are the symptoms?
Currently, the diagnosis of the disease occurs mainly by morphological observation of the features of the patient's face, head and limbs. Prenatal diagnosis is possible with ultrasound, which may reveal intrauterine growth retardation and limb abnormalities, findings that may indicate early diagnosis of CdLS. Therefore, the diagnosis is predominantly clinical.
How is it diagnosed?
Diagnostic confirmation is based on looking for mutations in NIPBL, SMC1A and SMC3, the only genes currently associated with the syndrome. Mutations in NIPBL are responsible for about 60% of CdLS cases; mutations in SMC1A and SMC3 are found in a small percentage of patients.
How is it treated?
The therapy is multidisciplinary / symptomatic to improve the quality of life of patients. Psychotherapeutic and psychological-pedagogical treatment is of fundamental importance.