Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation

This document reports the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X-linked dominant form of chondrodysplasia punctata. A 2-month-old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress. The condition was successfully managed with serial endoscopic balloon dilations, which restored airway patency, enabled weaning from respiratory support, and avoided the need for tracheostomy. This case expands the recognized clinical spectrum of CDPX2 and highlights the potential role of minimally invasive airway intervention in selected cases. Early recognition and proactive airway management are essential for improving outcomes in these patients.