Spastic Cerebral Palsy Mimic Caused by a Rare Genetic Disorder: DDX3X Syndrome

Cerebral palsy (CP) is traditionally considered a non-progressive motor disorder resulting from perinatal brain injury. However, recent advances in genetic diagnostics have revealed that a subset of children labelled as CP may harbour underlying genetic disorders. Identifying such CP mimics is essential, as they differ in aetiology, prognosis, management, and recurrence risk. We report a case of DDX3X syndrome presenting as spastic cerebral palsy. We describe a 1-year-old female infant presenting with global developmental delay, failure to thrive, and dysmorphic features. In the absence of significant perinatal insults and in view of dysmorphism, genetic evaluation was pursued and revealed abnormalities in the DDX3X gene, confirming Snijders Blok syndrome. This case highlights the importance of considering rare genetic disorders in children with developmental delay and atypical cerebral palsy features. Early genetic testing facilitates accurate diagnosis, personalised management, and appropriate genetic counselling, thereby avoiding mislabeling as cerebral palsy.