Abstract
BACKGROUND DEGCAGS syndrome is an exceptionally rare genetic disorder caused by mutations in the ZNF699 gene. It presents with a broad spectrum of clinical features, including neurodevelopmental delays and dysfunction or anomalies affecting the gastrointestinal, cardiovascular, genitourinary, and skeletal systems. Although these features have been described in the literature, reports of airway complications remain exceedingly rare. This report describes the case of a 1-year-old infant with a confirmed diagnosis of DEGCAGS syndrome who presented with progressive stridor and respiratory distress. CASE REPORT A 1-year-old girl with DEGCAGS syndrome (confirmed by ZNF699 mutation via whole-exome sequencing) presented with progressive stridor, hoarseness, respiratory distress, and feeding difficulties since birth. Despite prior suspicion of congenital laryngomalacia, her symptoms persisted. Clinical evaluation revealed microcephaly, coarse facial features, oropharyngeal masses, and developmental delay. Computed tomography and magnetic resonance imaging identified a nasopharyngeal soft-tissue mass and vocal cord edema. Fiberoptic nasopharyngoscopy demonstrated bilateral vocal cord dysfunction and laryngomalacia. Surgical resection of nasopharyngeal and tongue-base masses with supraglottoplasty was performed. Histopathology confirmed hamartomas. Postoperatively, the patient required transient ICU support but achieved stable respiration and normal feeding by discharge. Follow-up at 2 months revealed no recurrence or functional deficits. CONCLUSIONS To the best of our knowledge, this is the first documented case of multiple laryngeal hamartomas in a patient with DEGCAGS syndrome. This case emphasizes the need for heightened clinical vigilance in recognizing rare complications in genetic disorders and underscores the importance of a multidisciplinary approach to diagnosis and management.