Craniofacial Conditions

The neonatologist is often the first point of contact for a child born with a craniofacial malformation. Abnormalities of the face and head can be distressing to a new parent, who is immediately wondering, “Is my child going to look, feel, and develop normally?” Having a basic understanding of the relationship between craniofacial abnormalities and feeding, breathing, hearing, vision, speech, and overall development will help the neonatologist begin to counsel a family. Airway compromise is well described in multiple craniofacial syndromes, and early identification can be lifesaving. Prompt recognition of a constellation of anomalies pointing toward a syndrome or diagnosis will result in better-targeted evaluations and therapies for that patient. This chapter presents potential ICU issues that may be encountered with craniofacial malformations and syndromes and highlights the most relevant craniofacial conditions that a neonatologist will encounter. We describe here the diagnosis, etiology, phenotype, and potential ICU issues as well as basic management and screening recommendations to help guide neonatal providers in caring for an infant with craniofacial malformations, including Robin sequence, Orofacial clefts, 22q11.2 deletion syndrome, Craniosynostosis, Craniofacial microsomia, Moebius syndrome, Treacher Collins syndrome, CHARGE syndrome, Beckwith-Wiedemann syndrome, Frontonasal Dysplasia, Encephalocele, and Congenital nasal pyriform aperture stenosis.