Are Genetic Conditions Commonly Associated With Tongue Discrepancies or Anomalies?
Even in ancient medicine, the tongue has been primarily the organ that not only symbolized good health but was infact deemed the pivotal barometer for a good systemic health status. Currently, we all know that oral health is indeed a major parameter and an indicator of your systemic health and vice versa. As the saying commonly goes, the mouth is the mirror of your general health.
In this article, let us explore the different types of tongue anomalies that would either occur in isolation because of an underlying genetic condition or a systemic disease. It would be surprising to know that across the globe, a major number of developmental discrepancies or anomalies infact pertain to the infant's tongue that would affect the shape, size, texture, or the correct position of the tongue. Most of these genetic conditions that would manifest as the local abnormalities or discrepancies affecting the structure and functions of our tongue are usually because of structural defects that would occur at the time of embryogenesis (process by which a fertilized egg (zygote) undergoes multiple cell divisions and differentiation to develop into a fully formed embryo) according to dental and oral pathologic research. These embryogenic defects can be identified by your physician, neonatologist, or dentist after childbirth.
As many of the conditions that maxillofacial surgeons or oral surgeons deal with tongue anomalies are genetic, it is important to focus on timely diagnosis and early management initiatives so that esthetic and functional issues would not arise because of these discrepancies. Further, as the tongue has its innate role in functions of taste, speech, and food mastication, it is the most important sensory organ of the human body. Hence, tongue anomalies can indeed be seriously debilitating to the physical or systemic status of individuals affected.
What Are the Tongue Anomalies and Associated Genetic Syndromes or Conditions?
Often, many of these systemic diseases that are implicated alongside tongue abnormalities or anomalies can be further associated with extra-oral manifestations. The role of the dentist or maxillofacial surgeon would be important in diagnosing and initiating early management of systemic conditions, hence the direct diagnosis of tongue anomalies.
A. Macroglossia: This would be further sub-clinically categorized either as true or relative forms of macroglossia or enlarged tongue. The size of the tongue is impacted by the other oral structures, like the child's dentition. Macroglossia infact remains one of the major discrepancies affecting tongue in children, as a result of genetic disorders with a high global incidence rate. True macroglossia is when the tongue is enlarged by size and has little scope for surgical correction, which often occurs due to underlying genetic conditions such as Beckwith-Wiedmann syndrome (BWS) commonly (a congenital overgrowth disorder characterized by a wide range of physical features and an increased risk of childhood cancer). Often alongside skeletal muscle discrepancies like muscle hyperplasia or overgrowth, infants diagnosed with BWS syndrome can suffer commonly from macroglossia.
In relative macroglossia, wherein the tongue appears enlarged compared to other oral structures, as commonly seen in syndromes like downs syndrome (alongside hypotonia of the muscles) or Pierre robin syndrome (due to reduced or micrognathia of the jaw).
Other genetic syndromes that are commonly associated directly with the true or relative forms of macroglossia are;
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Robinow syndrome (a rare genetic disorder that affects bone development and causes distinct facial features, limb abnormalities, and genital abnormalities).
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Maroteux lamy syndrome (a lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase B).
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Crouzon syndrome (a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis), leading to an abnormal shape of the head and face).
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Hunter syndrome and Hurler syndrome (a rare X-linked recessive lysosomal storage disorder caused by a deficiency of the enzyme iduronate-2-sulfatase).
B. Microglossia: This is a rather rare condition reported in dental and oral pathologic literature that refers primarily to an underdeveloped or abnormally short-sized tongue. A common genetic syndrome that is associated with this tongue discrepancy is the oromandibular limb hypogenesis syndrome (a rare congenital disorder characterized by anomalies of the oral, mandibular, and limb structures).
C. Ankyloglossia or Tongue-Tie: In this condition, the lingual frenum of the tongue is abnormally affected and shortened, which tends to mainly restrict the mobility of the tongue. Though this condition can occur in an isolated pathologic form as well in some individuals, it can occur commonly concerning several genetic syndromes. Ankyloglossia or tongue tie can be a part of several syndromes commonly like Ehler-Danlos syndrome (a group of hereditary connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and tissue fragility), Beckwith-Wiedmann syndrome/BWS, cleft palate syndromes (occurs when the roof of the mouth does not fully develop during pregnancy, leading to an opening or split in the palate), orofacial digital syndrome (a group of genetic disorders characterized by malformations of the face, oral cavity, and digits (fingers and toes)), etc.
D. Bifid Tip of The Tongue: This is one of the most common genetic discrepancies affecting the tongue and is also denoted by different terms in medical and dental literature such as accessory tongue, supernumerary tongue, double tongue, etc. This condition is usually never an isolated finding at all. Several genetic syndromes can contribute to infants suffering from bifid tongue tips. Common examples are Goldenhar syndrome (a congenital condition characterized by anomalies in the development of the eyes, ears, and spine, often affecting one side of the body more than the other), Ellis van Creveld syndrome (a rare genetic disorder characterized by short stature, skeletal abnormalities, and dental anomalies), Klippel Feil anomaly (a congenital disorder characterized by the fusion of two or more cervical vertebrae, leading to a short neck, restricted neck movement, and low hairline), orofacial digital syndrome, Larsen anomaly (a rare congenital disorder characterized by joint dislocations, particularly in the hips, knees, and elbows, along with craniofacial abnormalities), etc.
E. Muscle Weakness of the Tongue: This would be either due to muscular hypertrophy or atrophy of the tongue. The tongue shows very limited movements and morphological discrepancies can exist that lead to a lack of correct tongue movements directionally. Common examples of genetic disorders associated with tongue muscle weakness the Duchenne muscular dystrophy syndrome (a severe, X-linked recessive disorder characterized by progressive muscle degeneration and weakness), amyotrophic lateral sclerosis (a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord), etc.
What Are the Management Options?
Many options exist, ranging from the use of systemic medications for the syndrome in question affecting the individual, radiation therapy, glossectomy or tongue surgery, speech therapy, orthodontic treatment, and reconstructive surgery modalities, etc. However, misdiagnosis or lack of treatment initiative may often cause functional debilitation for life, affecting patients' physical and mental health. Commonly, partial glossectomy along with reconstructive surgery is indicated in some tongue anomalies that have a genetic condition associated with them. However, an interdisciplinary collaboration is needed to manage these anomalies alongside the main intervention by the dentist or maxillofacial surgeon.
Conclusion
To conclude thus, genetic disorders that manifest tongue discrepancies or anomalies are the most severe debilitating oral conditions that lead to both esthetic and functional limitations (loss of tongue functions). Diagnosing these conditions properly by a maxillofacial surgeon with timely management can be useful to rehabilitate the affected infants or individuals, lest it lead to loss of tongue functionality.
