Infant with Micrognathia and High Arched Palate

Pierre Robin syndrome

Babies with Pierre Robin syndrome present with micrognathia and a high arched or cleft palate. They may be at risk of respiratory obstruction and may have difficulty feeding.

In Treacher Collins syndrome, patients may have downward sloping palpebral fissures, colobomas, sunken cheekbones, deformed pinnae, facial clefts, hypoplastic mandibles with dental malocclusion, and deafness.

Ectodermal dysplasias are a group of conditions involving the absence of some or all teeth and alveolar bone. Shwachman-Diamond syndrome consists of exocrine pancreatic insufficiency and hematologic abnormalities due to bone marrow failure.

Reference:

Kliegman RA, et al. Nelson's Textbook of Pediatrics. 20th ed., 2016.