Also known as Pierre Robin syndrome or malformation, Pierre Robin sequence (PRS) is a rare birth defect characterized by an underdeveloped jaw and deformities in the mouth cavity, including the tongue.
The condition is referred to as a sequence because it develops in steps. It is thought that the lower jaw’s growth is stunted in fetal development, leading to tongue displacement toward the back of the throat. Doctors call stunting of the lower jaw growth 'micrognathia.' The tongue gets pushed upward and interferes with the natural closure of the developing palate, sometimes creating a U-shaped cleft palate. 'Glossoptosis' is the term used to describe when the tongue falls back toward the back of the throat. When this happens obstructive sleep apnea (OSA) may occur, making it difficult for the baby to breathe. Lying on the back can make this worse, because gravity makes it difficult to lift the tongue away from the back of the throat.
Symptoms
Deformities of the jaw and mouth are present at birth and affected children will likely have trouble breathing and eating. Sometimes, PRS can result in natal teeth — teeth that are present when a baby is born. Repeated ear infections can also be common.
Diagnosis
PRS can be diagnosed with a physical exam at birth.
Treatment
If your child has PRS, treatment will come in stages to address a variety of functions, including hearing, breathing and feeding. Several specialists of our North Carolina Cleft and Craniofacial Center team will be involved in your child’s care.
Placing the child on his or her stomach, rather than on his or her back, can help prevent the tongue from falling back toward the throat. If this does not solve breathing issues, small tube-like instruments may be inserted into the nose to keep the airways open. Surgery may be recommended to make the mandible larger. This technique is called mandibular distraction osteogenesis (MDO), and consists of a surgery to place devices to gradually lengthen the lower jaw. A second smaller surgery is required to remove the devices, typically 1-3 months later. For infants with severe apnea related to their small jaw MDO surgery may be necessary to maintain the airway and prevent the need for a tracheostomy. If airway obstruction is even more severe, a tube may be inserted in the infant’s throat in the hospital or, rarely, a surgical opening may be made into the trachea through the neck to help the infant breathe.
Cleft palate surgery will then be performed between 12 and 18 months of age around the time the jaw naturally grows to a correct length.
To address feeding-related difficulties, a variety of specially adapted bottles and nipples may be used. If feeding problems are unresolved and severe, a feeding tube may be needed temporarily in order to assist with proper weight gain.
Continued comprehensive treatment will be provided by our team of specialists as needed. Speech therapists, ear, nose, and throat doctors (otolaryngologists) and audiologists can provide follow-ups. Orthodontists, maxillofacial surgeons, and dentists work together to monitor the oral cavity, and ophthalmologists are available to monitor for ocular abnormalities. Additionally, genetic therapy is available through our team at the North Carolina Cleft and Craniofacial Center.
