Pierre-Robin syndrome

Pierre Robin syndrome (PRS), also known as Pierre Robin sequence/anomaly (first arch, “bird face”), is a congenital (genetic) condition characterized by a combination of cleft palate, micrognathia (small lower jaw), and glossoptosis (airway obstruction caused by posterior displacement of the tongue base).

Diagnosis:
The genetic cause of PRS has only recently been identified. Pierre Robin sequence is associated with genetic abnormalities on chromosomes 2, 11, or 17. Treatment is mostly surgical, focusing on resolving breathing and feeding problems to optimize the child’s growth.

Prognosis: generally good. Once the initial breathing difficulties and feeding problems are overcome in early childhood, most patients lead a healthy and normal life.

Children affected by PRS usually reach normal developmental milestones and height; however, they are often slightly shorter on an international average. This is likely due to incomplete development caused by insufficient oxygen supply due to upper airway obstruction, as well as inadequate nutrition.

Children with a posteriorly displaced tongue (and therefore breathing difficulties) are positioned on their stomach (prone position). In more severe cases, intubation (insertion of a tube into the trachea) or tracheostomy (an opening from the trachea to the skin to bypass the obstruction) is necessary.

Due to feeding difficulties, a temporary nasogastric tube is inserted until the child is able to feed independently. In cases of fluid in the middle ear and resulting hearing impairment, fluid drainage is performed, or ventilation tubes (grommets) are inserted. Hearing impairment usually resolves after surgical repair of the soft palate, typically around 8 months of age.

Treatment:
Children with PRS have significant feeding difficulties before and often also after surgery due to a weak sucking reflex. Because of the cleft, they are unable to create negative pressure in the oral cavity. Common problems include nasal regurgitation of food, food refusal, and crying during feeding. Therapy is guided by a speech therapist, and it is necessary to strengthen the muscles of the soft palate through exercises such as blowing balloons, drinking through a straw, and gargling water.

• Micrognathia (small jaw)
• Glossoptosis (airway obstruction caused by posterior displacement of the tongue base), leading to: breathing difficulties, especially in the supine (lying on the back) position
• U-shaped cleft of the palate
• Cleft palate
• Feeding difficulties due to posterior tongue position interfering with swallowing and due to the cleft
• Gastroesophageal reflux (heartburn)
• PRS may occur as an isolated condition but is often part of another disorder
• Frequent lower respiratory tract infections and pneumonia
• Hearing impairment due to cleft palate and recurrent middle ear infections