Syndromes and Congenital Anomalies

Children may present to voice, swallow, and aerodigestive clinics with known syndrome diagnoses, or in some cases speech-language pathologists and otolaryngologists may be the first medical professionals to note a constellation of symptoms that lead to genetic testing and diagnosis. In either situation, it is important to have a basic understanding of some of the more common syndromes and congenital anomalies associated with laryngeal and airway abnormalities. This is not a comprehensive list, but is designed to give clinicians an overview of some of the syndromes they are most likely to see in clinic.