Craniofacial syndromes comprise a group of rare conditions leading to significant abnormalities of the bones of the head, upper and lower jaw. Broadly, these syndromes are divided into those characterised by either early fusion of the skull bones called as craniosynostosis, or cleft of the palate.

Craniosynostosis or premature fusion of the cranial sutures has effects on the development of the skull, face and brain leading to multiple problems like raised intracranial pressure, protrusion of the eyes and upper airway obstruction. Common syndromic craniosynostosis are Apert, Crouzon or Pfeiffer syndrome. Craniofacial syndromes associated with cleft palate have an associated small jaw or mandibular hypoplasia. Common syndromes include Pierre Robin sequence, Treacher Collins, Nagar and Stickler syndromes.

Sleep problems are extremely common in children with craniosynostosis syndromes. These include obstructive sleep apnea and central sleep apnea. Obstructive sleep apnea happens due to the midface hypoplasia and micrognathia. Central sleep apnea is seen due to associated Chairi malformation. Proper evaluation and diagnosis of sleep apnea requires a sleep study or polysomnography. As sleep apnea is very common in children with craniosynostosis syndromes yearly screening with Sleep Study is recommended in patients with Apert, Crouzon and Pfeiffer syndromes.

Management of these complex disorders involves multidisciplinary care including craniofacial surgery, pediatric respiratory/sleep medicine and ENT.