Facial dysostosis: Treacher Collins, Nager, Miller, ...

Treacher Collins

Symmetric facial anomalies: Hypoplasia of infraorbital rim and zygomatic arch, coloboma of eyelids, low position of lateral canthi, entropion, microtia, deafness, hypoplasia of mandible, breathing- and feeding difficulties. Often co-occurrence of a cleft palate.

 

Nager

Similar to Treacher Collins syndrome, combined with hypoplasia of the thumbs

 

Burn-McKeown

Symmetric of asymmetric facial anomalies, choanal atresia.

 

These disorders are highly related to breathing problems, and the newborn child should be screened with a sleep study. In general, the major site of obstruction is at the tongue base level. Whenever a child also has a cleft palate, surgical closure of the palate can worsen the breathing problems significantly. Before performing this surgical procedure, one has to be certain that breathing will not become obstructed. This can be done by performing an overnight sleep study with the child wearing a palatal plate that mimics a closed palate.

Breathing problems tend not to lessen with time in facial dysostosis, but need treatment. This can be either supportive measures such as oxygen during the night or CPAP, but it could also require surgical interventions like tracheostoma for severe obstructed breathing and mandibular distraction.