1. Facial Characteristics
Pierre Robin syndrome is a birth defect that affects as many as 1 in 8,500 newborns. The main characteristics of this condition are facial malformations. If your baby has Pierre Robin syndrome, he will have a small, underdeveloped jaw (micrognathia) and a recessive chin. In severe cases, this facial deformity can be identified before a baby is born, using a fetal sonogram. It cannot be tested for, however, as it is not a genetic disorder. It is most likely caused by some type of mechanical impediment to growth in early fetal development, but no one knows exactly what that impediment is. It is usually diagnosed based on a physical examination at birth, though doctors may run genetic tests to rule out other conditions with similar symptoms.
2. Problems With the Palate
Babies with Pierre Robin syndrome also have problems with their hard and soft palates. The palate, or roof of the mouth, is divided into a hard, bony front portion and a softer, fleshy rear portion. Those with Pierre Robin syndrome often have a U-shaped hard palate and cleft soft palate. A cleft soft palate looks like a whole in the roof of the mouth. Cleft palates can be fixed with routine surgery at between 9 and 18 months of age. Until then, however, you may have problems with feeding. Cleft palates are common birth defects that are not enough to identify or diagnose Pierre Robin syndrome.
3. Tongue Abnormalities
Tongue abnormalities are another symptom of Pierre Robin syndrome. Because the jaw is so small on a baby with this condition, the tongue often appears abnormally large. In truth, the tongue is normal in size, but it's still a problem for babies with Pierre Robin syndrome. Their tongues are displaced in the mouth in a posterior position. The tongues also experience retraction, falling backwards in the mouth. As a consequence of an underdeveloped jaw, babies with Pierre Robin syndrome often have smaller upper airways. When the tongue retracts, it can pose a choking hazard.
