1. Do a Physical Exam
Pierre Robin syndrome is a congenital birth defect with no known genetic component. Consequently, identifying the physical symptoms is the only way to diagnose the condition. This can be done during your fetal sonogram if the features are sufficiently pronounced. In most cases, however, this is done in a postnatal exam. Most babies with Pierre Robin syndrome will have jaw malformations that are easily spotted. Doctors may do some genetic tests before positively diagnosing your baby with Pierre Robin syndrome. The tests are used to rule out other disorders, but only the physical examination and imaging tests are needed to diagnose Pierre Robin syndrome.
2. Note Jaw Abnormalities
It's not hard to spot a newborn with Pierre Robin syndrome because she will have deeply receding chins and small jawbones, called micrognathia. The level of malformation can vary from mild to severe. In mild cases, the micrognathia may not be immediately apparent. In these cases, other symptoms are used to make a diagnosis. In a severe case, the micrognathia may be so pronounced that your child becomes unable to breathe without assistance. At that point, your child must be immediately intubated to save her life.
3. Look Inside the Mouth
Two common symptoms of Pierre Robin syndrome are located inside the mouth. A cleft soft palate is present in as many as 91 percent of all cases. A cleft in the soft palate looks like a hole in the roof of the mouth. Additionally, glossoptosis, displacement and retraction of the tongue, is present in up to 85 percent of all cases. With glossoptosis, the tongue is abnormally positioned far back in the mouth and can fall back even more when it retracts. It can fall back so much that it can block your child's airway and induce choking. All of these symptoms should be identified by your doctor or midwife at birth.
