Glossoptosis is a medical condition and abnormality which involves the downward displacement or retraction of the tongue. [1] This mostly affects infants and children. [2] It may cause non-fusion of the hard palate, causing cleft palate. [1] It can also cause difficulties with feeding and upper airway obstructions. [3] Glossoptosis could be a symptom of a birth defect from Pierre Robin Syndrome. [2] It can also arise with Down syndrome and cerebral palsy. [2]
Glossoptosis is characterized by an abnormal posterior placement of the tongue like a downward displacement or retraction. This characteristic causes other symptoms to arise because of the abnormality. Glossoptosis may cause upper airway obstruction which can lead to infants not getting enough oxygen. [2] Not only may they not get enough oxygen they most likely will experience shortness of breath and struggle to breathe. [2]
Not being able to breathe properly can lead to other difficulties like struggling to breastfeed or even eat because of the lack of oxygen. [3] Infants and children can also have difficulties swallowing because of the abnormal placement of the tongue. [2] If they are unable to eat properly this can cause a lack of nutrients in the infants or children affected with the abnormality, and most likely will fail to thrive. [3]
Another symptom of glossoptosis can be obstructive sleep apnea. [2] A study showed that 25% of children who were sent for fluoroscopic sleep studies showed glossoptosis as a cause of airway obstruction leading to sleep apnea. [4] Some children affected with glossoptosis can also experience speech issues. [2]
Glossoptosis can be caused by birth defects one being Pierre Robin Syndrome (PRS). [2] Birth defects usually occur during the pregnancy and are present at birth. [2] They are not preventable. [2] Pierre Robin Syndrome specifically targets infants’ jaws and may not form properly. [2] Pierre Robin Syndrome is also known as Pierre Robin sequence because it is a sequence of disorders, one causing the next. [3] For example, micrognathia in PRS can lead to glossoptosis and that leads to airway obstruction. [3]
Genetic disorders can cause glossoptosis as well. [2] Genetic disorders happen when there is a mutation or change in a gene. [2] They can also be passed down from parents to their children. [2] Down syndrome is one of those genetic disorders that can cause glossoptosis in a child. [2]
Neuromuscular disorders such as cerebral palsy also causes glossoptosis. [2] Neuromuscular disorders happen when there’s an abnormality in brain development. [2] This can happen during or after pregnancy. [2] Children affected with cerebral palsy have weak muscles which can affect the tongue. [2] Weak tongue muscles lead to children with cerebral palsy having downward displacement or retraction of the tongue. [2]
There are many ways to diagnose this abnormality. Flexible Fiberoptic Laryngoscopy (aFFL) is a procedure that is most frequently used to diagnose glossoptosis. [5] A study did show that it was not the most reliable, but it can be used to diagnose glossoptosis. [5]
An infant with the condition can have a small lower jaw which can be a physical indicator of glossoptosis and can be used to diagnose the abnormality. [2]
Breathing as well can show the abnormality especially if there are any upper airway obstructions. [3]