Glossoptosis: A Craniofacial Abnormality

If your infant’s doctor is concerned that your infant might have glossoptosis, it’s normal to feel worried or overwhelmed. But once you take a few calming breaths, it’s also important to note that there are many effective treatment options available to you and your family. Read on to find out what they are so you can get the best care for your child.

What Is Glossoptosis?

Glossoptosis is part of the Pierre Robin sequence, a condition with several clinical features, including a small lower jaw (known as micrognathia) and the tongue's displacement towards the back of the oral cavity (glossoptosis). Sometimes these features are accompanied by an opening in the roof of the mouth (cleft palate). The features of PRS can be present as an isolated sequence (isolated PRS) or as part of a genetic syndrome (also known as syndromic PRS).

Why Does Glossoptosis Occur?

PRS occurs in about 1 in 8,500-14,000 individuals. According to the National Organization of Rare Disorders, the lower jaw does not grow enough in infants who develop PRS, which leads to the tongue being displaced towards the back of the oral cavity. Since the oral cavity is limited in size, the tongue gets pushed upwards, interfering with the developing palate's natural closure. These changes occur during pregnancy, leading to craniofacial abnormalities.

Diagnosis and Treatment for Glossoptosis

PRS is detected while the fetus is still in the womb or at birth. During ultrasound imaging, trained medical personnel can visualize features of PRS. If PRS is undetected before birth, craniofacial abnormalities can be detected with a physical exam at birth.

There isn’t one standard test used to diagnose isolated PRS. That said, molecular genetic testing can be used to identify changes in DNA involving the SOX9 gene. DNA near this gene is the most typically affected region in cases where PRS occurs on its own.

What are the treatment options available to you? Glossoptosis can affect your infant’s breathing. So placing your child on the stomach (prone position) rather than on the back can prevent the tongue from falling back towards the throat. If your child’s airway is still obstructed, tube-like instruments may be inserted into the nose to keep the airways open. This is known as a nasopharyngeal airway. If airway obstruction is even more severe, a tube may be inserted into your infant’s throat.

While non-surgical treatments are usually adequate, sometimes surgical intervention is necessary. According to Operative Techniques in Otolaryngology, tongue-lip adhesion or glossopexy is a treatment that involves the repositioning of the tongue and keeps the tongue forward. This will help your child to breathe. The procedure can be reversed once your infant’s mouth and jaw properly grow. It is usually performed by an otolaryngologist (ENT specialist) or an oral surgeon assisted by a plastic surgeon.

While no parent wants to hear that their child is diagnosed with glossoptosis, the good news is that it’s highly treatable. With the multitude of treatment options available, you can rest assured that your infant will be in good hands. Monitor your child’s breathing and feeding, and don’t forget to celebrate the birth of your beautiful newborn.