Unraveling a Rare Diagnosis: Genetically Confirmed Cornelia De Lange Syndrome in an Emirati Female Patient.

Cornelia de Lange syndrome (CdLS) is a rare multisystem genetic disorder characterized by distinctive facial features, developmental delay, and a range of congenital anomalies. Despite increasing recognition globally, detailed reports from the Arabian Gulf region remain limited, particularly those incorporating long-term clinical follow-up and genetic confirmation. Here, we report the case of a 28-year-old Emirati female who was clinically diagnosed with CdLS at birth and subsequently developed intractable epilepsy, profound developmental delay, hypothyroidism, stage 3 chronic kidney disease, and significant behavioral difficulties. The patient is bedridden, noncommunicative, and fully dependent on family care. Genetic testing identified a novel 4-base-pair frameshift insertion pathogenic variant impacting the NIPBL gene, confirming the clinical diagnosis and underscoring the diagnostic complexity, multifaceted management challenges, and the critical need for coordinated multidisciplinary care in patients with CdLS.