From the Guidelines
Yes, children with DiGeorge syndrome, also known as 22q11.2 deletion syndrome, commonly have airway abnormalities, occurring in approximately 20% of children, as reported in the updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome published in Genetics in Medicine in 2023 1. These airway anomalies can include laryngomalacia, tracheomalacia, subglottic stenosis, glottic web, vocal fold paralysis, and laryngeal cleft, with symptoms such as stridor/noisy breathing, aspiration, and need for supplemental oxygen. Some children may require tracheostomy, especially those with concomitant congenital heart disease. Key airway abnormalities to consider in DiGeorge syndrome include:
- Laryngomalacia
- Tracheomalacia
- Subglottic stenosis
- Glottic web
- Vocal fold paralysis
- Laryngeal cleft
- Esophageal atresia
- Tracheoesophageal atresia
- Trachea atresia Children with DiGeorge syndrome should undergo routine screening for airway abnormalities, with formal airway evaluation recommended as symptoms warrant, as suggested by the 2023 study in Genetics in Medicine 1. Additionally, feeding and swallowing disorders, which may be related to pharyngeal hypotonia, require monitoring for symptoms of aspiration during routine otolaryngologic visits, with a low threshold to obtain a swallowing study, as noted in the same study 1.
From the Research
Airway Abnormalities in DiGeorge Syndrome
- DiGeorge Syndrome (DGS) is associated with various airway abnormalities, including laryngomalacia and suprastomal collapse of the trachea (SCT) 2.
- Structural airway anomalies, such as tracheoesophageal fistula, short trachea, abnormal thyroid cartilage, tracheomalacia, and bronchomalacia, have been recognized in patients with DGS 3.
- A study found that 66% of patients with 22q11.2 deletion syndrome (22q11DS) had airway anomalies, including laryngomalacia, tracheomalacia, and bronchomalacia 4.
- Synchronous airway anomalies are common in children with 22q11DS, and providers should be vigilant about airway evaluation when aerodigestive symptoms are present 4.
- Airway abnormalities can lead to sleep disordered breathing (SDB) and other respiratory complications in patients with DGS 2, 4.