Glossoptosis: A Craniofacial Abnormality

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Glossoptosis describes the abnormal formation of the tongue, specifically an upward and posterior positioning toward the throat or pharynx. It can result in an obstructed airway and jeopardize ventilation, along with the ability to properly suck and swallow. The condition, often fully treated in infancy, occurs during craniofacial development and is usually associated with other developmental conditions.

Why Does Glossoptosis Occur?

One of the most common connections is with Pierre Robin sequence, which also exhibits an undersized lower jaw, or micrognathia, and cleft palate, explains the National Institutes of Health. The smaller-than-normal jaw size causes the improper position of the tongue, which in turn affects the proper formation of the infant's palate. According to a study published in the Orphanet Journal of Rare Diseases, Robin sequence occurs in slightly more than 12 per 100,000 live births. What causes this developmental defect? A genetic link is attributed to this sequence, and although it occurs with other syndromes that affect other parts of the body, it can occur in isolation – accounting for 20 to 40 percent of cases.

Diagnosis and Treatment for Glossoptosis

Since glossoptosis is associated with other developmental conditions, diagnosis is often made at birth or soon after. An article in the journal Fetal Diagnosis and Therapy about Robin sequence mentions screening before birth through ultrasound. Detecting micrognathia is difficult because prenatal ultrasounds are two-dimensional images and this abnormality can be overlooked. As a result, most diagnoses are made after birth and immediate intervention is required.

Glossoptosis can interfere with proper breathing and feeding, so immediate steps need to be taken to evaluate the airway and maintain valuable respiration. Inadequate respiration can lead to a reduction in weight and the infant's inability to thrive. Prone positioning (allowing babies to sleep on their stomachs) uses gravity to allow the mandible and tongue to come forward, reducing the airway obstruction, and so the infant's sleeping position is altered to allow for "side sleeping." Boston Children's Hospital recommends this positioning for parents of babies with Robin sequence, but notes that continued monitoring for growth and development as well as successful feeding is critical. Another non-surgical option is a nasopharyngeal airway (NPA), notes the National Health Service. This procedure involves inserting a tube into the nasal passages to maintain an open airway. With both treatments, supplemental oxygen therapy is commonplace.

Although most treatments can be accomplished without surgery, when surgical intervention is necessary it involves repositioning of the tongue. Known as tongue-lip adhesion or glossopexy, this option is only considered if prone positioning and NPA are unsuccessful. This procedure keeps the tongue forward, relieving the infant's struggle to breathe. According to Operative Techniques in Otolaryngology, the tongue-lip adhesion does not interfere with growth and development of the lower jaw or the teeth located in the anterior region. It can be performed by an otolaryngologist (an ear, nose, and throat specialist), or an oral surgeon assisted by a plastic surgeon. When the infant's mouth and jaw achieve proper growth, the procedure can be reversed.

Outlook for Glossoptosis

Although glossoptosis may sound frightening to new parents, the variety of care options available make it a very manageable condition. Additionally, after treatment and possible surgery as infants, most children's jaw and oral growth will have caught up to normal levels by the age of 4 or 5. Monitor your baby's feeding and breathing carefully, and don't forget to appreciate their beautiful smile. 

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