Everything You Need To Know About Cornelia de Lange Syndrome

The Road To Diagnosis

Similar to other conditions, a CdLS diagnosis is determined by identifying its characteristic symptoms with a thorough medical examination of the patient in question. Genetic testing may be able to confirm the diagnosis, but as previously mentioned, thirty percent of cases have an unknown genetic cause. Diagnosis typically occurs after birth or during childhood when the physical characteristics are present, though it can be difficult if symptoms are mild. However, Cornelia de Lange syndrome can occasionally be diagnosed prenatally through ultrasound imaging. In ultrasound imaging, the reflected sound waves create an image, which may reveal some of the characteristics of CdLS. When they do reveal characteristics, they are typically limb abnormalities, organ malformations, facial anomalies, as well as delayed growth.

Once CdLS is accurately diagnosed, the next step is to determine the appropriate course of treatment for the patient. Continue reading to learn about what options are available.