CORNELIA DE LANGE SYNDROME

Course overview

CORNELIA DE LANGE SYNDROME (CDLS) WAS INITIALLY DESCRIBED IN 1933. CDLS IS A GENETIC DISORDER THAT AFFECTS MANY ORGANS, LEADING TO VARIOUS CLINICAL PRESENTATIONS. TYPICAL FEATURES OF THIS RARE DISEASE INCLUDE RESTRICTED GROWTH, INTELLECTUAL DISABILITY, CRANIOFACIAL ABNORMALITIES, AND HIRSUTISM (EXCESS BODY HAIR). ADDITIONAL FEATURES INCLUDE GASTROESOPHAGEAL REFLUX (GERD), LIMB DYSPLASIA, GENITOURINARY MALFORMATIONS, AND HEART DEFECTS. THIS ACTIVITY DESCRIBES THE PATHOPHYSIOLOGY, CLINICAL EVALUATION, AND MANAGEMENT OF A PATIENT WITH SUSPECTED CORNELIA DE LANGE SYNDROME AND EXPLAINS THE ROLE OF THE HEALTH PROFESSIONAL TEAM IN COORDINATING THE CARE OF PATIENTS WITH THIS CONDITION.