Orofacial Manifestations of Phelan-McDermid Syndrome

Phelan-McDermid syndrome is a rare genetic disorder primarily caused by deletions or structural changes in chromosome 22q13. In a publication from 2025, De Falco et al. described the first documented case of unilateral facial lymphedema associated with Phelan-McDermid syndrome. The patient was referred for evaluation due to developmental delays and pronounced swelling on the right side of her face.