Genetics

Genetic Etiology of Congenital Airway Anomalies

iPhenotype / Syndrome Genetic Etiology

Small Mandible (Robin Sequence)

GAD67, PVRL1, SOX9, COL2A1, COL11A1, and COL11A2

Glottic Web
(Velocardiofacial syndrome)

22q11.2 del

Elliptical Cricoid

Unknown

Laryngeal Cleft / TEF

Sonic Hedgehog

Complete Tracheal Rings Unknown
Tracheal Cartilaginous Sleeve (Pfeiffer, Aperts, Crouzons) Fibroblast growth factor receptor

Subglottic stenosis
(Down Syndrome)

Trisomy 21