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Year : 2012  |  Volume : 23  |  Issue : 2  |  Page : 264-270
Hypoglossia Type 1A: Report of a case and review of literature with focus on clinical investigations

1 Sudha Rustagi Dental College, Faridabad, Haryana, India
2 Department of Oral Medicine and Radiology MCODS, Manipal, India
3 Department of Oral Medicine, PDM Dental College, Bahadurgarh, Haryana, India

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Date of Submission24-Apr-2011
Date of Decision06-Sep-2011
Date of Acceptance29-Feb-2012
Date of Web Publication3-Sep-2012


Hypoglossia is a rare entity which is reported sporadically. Hypoglossia has often occurred in an association with limb anomalies and, therefore, these cases have been grouped together as hypoglossia-hypodactylia within oromandibular limb hypogenesis syndromes. The literature on this condition is reviewed, and a case of hypoglossia has also been presented. An investigative protocol to aid in the treatment planning of a patient with hypoglossia has also been suggested.

Keywords: Hypodactylia, hypoglossia, investigative, protocol

How to cite this article:
Sharma G, Vengal M, Pai KM, Nagpal A. Hypoglossia Type 1A: Report of a case and review of literature with focus on clinical investigations. Indian J Dent Res 2012;23:264-70

How to cite this URL:
Sharma G, Vengal M, Pai KM, Nagpal A. Hypoglossia Type 1A: Report of a case and review of literature with focus on clinical investigations. Indian J Dent Res [serial online] 2012 [cited 2023 Mar 23];23:264-70. Available from:

   Introduction Top

Hypoglossia or microglossia is a rare congenital anomaly, manifested by the occurrence of a small or rudimentary tongue. The orofacial features associated with hypoglossia are recessed or hypoplastic mandible, absence of mandibular incisors, intra-oral bands, marked enlargement of the sublingual muscular ridges and hypertrophy of sublingual and submandibular glands. The pathogenesis of hypoglossia is still unknown. Isolated cases of hypoglossia without limb anomalies have rarely been reported. [1] We report a 41-year-old male with hypoglossia and hypoplastic mandible with absence of limb anomalies. A proposed investigative protocol of patients with hypoglossia is also presented in this article along with review on clinical characteristics, etiopathogenesis, management and complications of hypoglossia.

   Case Report Top

A 41-year-old male visited the department of oral medicine and radiology at our hospital with chief complaint of pain in upper anterior jaw since 1 week. On eliciting medical history, patient revealed a history of gastroesophageal reflux with an aspiration of food thrice in past. The external physical appearance of the patient seemed to be apparently normal [Figure 1].
Figure 1: Extra-oral lateral view showing micrognathia

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Clinical examination of oral cavity revealed a rudimentary tongue confined to posterior molar area [Figure 2]. The tongue was limited in movement and could not reach an anterior part of the oral cavity. The patient reported that this condition has been present since birth. The major part of the tongue was absent and sublingual tissues in floor of the mouth were relatively hypertrophied. A narrow and constricted oropharynx was observed with normal uvula [Figure 3]. Palate was high arched and constricted. A schematic illustration of hypoglossia with constricted palate has been depicted in [Figure 4]. Clinical examination revealed a convex soft tissue facial profile consistent with micrognathia. The mandible was hypoplastic with the mandibular dental arch constricted, and retrusion of the mandibular arch region relative to the maxillary arch was observed. On examination of the dentition, multiple decayed teeth were observed in the maxillary and mandibular dental arch. The opening and closing of the mouth was normal and without deviation. Family history of congenital anomalies was non-contributory and no consanguinity was reported. According to the patient, there was no maternal history of drug ingestion or trauma during pregnancy. His mental and somatic development was judged to be normal. There was slight slurring of speech and his taste sensation was not distorted.
Figure 2: Shows hypoglossia with multiple root stumps

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Figure 3: Shows high arched and constricted palate with narrow oropharynx

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Figure 4: Depiction of hypoglossia

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The patient was referred for an ear, nose and throat (ENT) consultation, which opined of a narrow airway opening. Routine pathological investigations and thyroid function tests showed no abnormal findings. Tenderness in upper anterior jaw was attributed to the presence of multiple decayed teeth, which were subsequently extracted.

   Discussion Top

Since de Jussieu first described lingual hypoplasia in 1719, fewer than 70 cases have been reported in English literature. [2] Most of hypoglossia cases documented have occurred in conjunction with limb anomalies of varying degrees. [2],[3],[4],[5],[6],[7],[8],[9],[10],[11],[12],[13],[14],[15],[16],[17],[18],[19],[20],[21],[22],[23],[24],[25],[26],[27],[28],[29],[30],[31],[32],[33],[34],[35],[36],[37],[38],[39],[40],[41] A few cases of isolated hypoglossia have also been reported in literature without involvement of extremities. [2],[33]

Hypoglossia is rare developmental anomaly. Most of case reports have described single cases [Table 1]. There is slight female predilection [hypoglossia has been reported in 35 females and 27 males]. Gender was not mentioned in 4 cases. The most common associated anomaly (other than limb abnormalities) has been partial anodontia, cleft palate, situs inversus and cleft of lower lip. The average age of the patients, presenting with hypoglossia in published case reports in English literature was 6.3 years.
Table 1: Chronological documentation of Hypoglossia with or without hypodactylia

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During development of an embryo, an anterior tongue is formed from three structures of the first branchial arch, the two lateral swellings and a median swelling, the tuberculum impar. The second and the third branchial arches form the posterior part of tongue. Therefore, hypoglossia is attributed to failed growth of the two lateral lingual swellings, tuberculum impar and second and third branchial arches.

Although a number of theories have been proposed, an etiology of this syndrome is unknown. Various authors have suggested the usage of various drugs (meclizine, marijuana and benzamide hydrochloride) as the causative agent during pregnancy, but none have been proved. [14],[19] In animal experiments, similar malformations have been induced by specific drugs such as adrenaline or vasopressin, or by vitamin B deficiency. [19] Torpin has suggested that rupture of an amnion during early pregnancy may produce membranous strands, which adhere to extremities and may also be responsible for facial abnormalities. [13] Scott suggested that the presence of organized thrombi in fetal vessels maybe responsible for an ischemic event. A vascular accident has also been postulated as a possible causative factor. [9] Before external carotid artery takes over the blood supply to tongue and mandible, the stapedial artery supplies first brachial arch. Injury to stapedial artery or its premature involution can hamper the vascular supply and may be responsible for the orofacial anomalies. [12] Oulis and Thornton considered radiation therapy received by mother at around first month of pregnancy, as an environmental factor that could be contributory. [13]

The explanation of hypoglossia is unlikely due to chromosomal aberrations since karyotypes of peripheral lymphocytes have always revealed normal tests. [30] An autosomal dominant mode of inheritance with reduced penetrance and variable expression was proposed by Temtany and McKusick in 1969. [5] In 1977, Tunebick et al proposed an autosomal recessive mode of inheritance. [8] Conversely, Pindborg and Gorlin excluded possibility of genetic abnormality and considered intra uterine environmental factors as source for syndrome. [17] In the review of literature, no hereditary pattern could be established and no two members of the same family had hypoglossia. Chorionic villious sampling (CVS), when performed before 10 weeks of amenorrhea, has also been associated with such a disorder. [21]

Hall, in 1971, observed an association of limb anomalies with hypoglossia along with other varied clinical conditions, named oromandibular limb hypogenesis (OLHS) syndrome and classified it into five categories; with the only necessary criteria being hypoglossia. [1] An attempt to modify this classification was done by Chicarilli, (1985) who took into consideration an embryologic origin and the clinical presentation [Table 2]. [42] Our patient had only hypoglossia without limb anomalies. This is consistent with Type IA OLHS (Hall's classification) and type II (Chicarilli's classification).
Table 2: Hall's classification (1971) and Chicarilli's classification (1985) for Oromandibular limb hypogenesis syndrome

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Hypoglossia is also frequently combined with craniofacial dysostosis, Pfaudler-hurler syndrome, hypertelorism, and orofacial digital syndrome. [29] Hypoglossia has also been reported with jejunal atresia, [18] situs inversus totalis, [13],[16],[26],[30],[32] hypothyroidism, [34] VI th and VII th cranial nerve palsies, [24] fused labia majora, apple peel bowel, and femoral-facial syndrome with hemifacial microsomia. [36]

Because of the similar chronology of the development of the tongue and limbs (4-7 weeks intrauterine life), impairment or insults the fetus suffers during this development period may be responsible for the tongue and limb abnormalities seen in hypoglossia-hypodactylia syndrome. The limb involvement with syndrome may indicate a graver prognosis with these patients at greater risk of having other developmental anomalies, both in head and neck area and distant sites, which are likely to be life threatening. [42] Most of reported cases in the literature have been infants and young children and so far, no case have been reported with isolated hypoglossia in an elderly age (in this patient, 41 years). Thus, corroborating above statements that hypoglossia with limb anomalies has a poor prognosis.

Tongue is the most agile, adept and versatile appendage in the human body. The highly coordinated muscular activity of the tongue is responsible for suckling, licking, swallowing, phonation, collecting liquid and solid food, and manipulating them during chewing. The general and special sensory nerve supply helps in assessment of taste, touch, pain, temperature and pressure. The suckling reflex is the primary mode of nourishment for nursing infants. It requires the infant to position the tongue in an anterior floor of the mouth to receive breast milk from the nursing mother. This activity is impossible for someone with hypoglossia. Such patients rarely survive for more than three days due to lack of feeding, which contributes to rarity of hypoglossia being seen in elderly patients. It is extraordinary that this patient was able to manage to survive till adulthood.

Hypertrophy of the structures of the floor of the mouth occurs in order to compress them against the hard palate during the act of swallowing. This can be attributed to compensate the swallowing function of a tongue, which is not possible in hypoglossia. The muscular pressure of tongue contributes in development and shape of jaws and establishment of occlusion. Therefore, lack of lingual muscular stimulus as seen in hypoglossia, affects the development of jaws and malocclusion of teeth is usually found. In this patient, the normal musculature of an oral cavity and lack of normal tongue musculature caused the mandible to collapse. A hypoplastic mandible with concurrent hypoglossia could also be explained by the fact that the mandible originates from the same visceral arch as the tongue.

The tongue is the major organ of speech articulation in normal subjects and may affect adaptive speech motor gestures in patients with oral abnormalities. Speech is learned slowly and is very poor during early years. Speech improves with time, and speech therapy at regular intervals may help to speed up learning of difficult sounds. The present case report did not examine speech in detail. However, previous reports of the syndrome documented that speech defects are surprisingly minor in these patients, irrespective of the size of tongue. [19] This may be explained by the finding that, other muscles tend to substitute for the tongue and help to compensate in both, mastication and speech. This would also account for the common finding of enlarged sublingual mucosa in patients with hypoglossia.

Taste is a subjective sensation, induced when a chemical compound contacts a receptor cell in taste bud. Taste buds are generally present at tip (sweet), lateral borders (sour and salty) and posterior region (sour and bitter). Taste sensation is also supplemented by palatoglossal arches, soft palate, epiglottis and posterior wall of pharynx. The perception and differentiation of normal taste in this patient was surprising. This may suggest that traditional view of taste is over simplified and that taste is a more complex phenomenon than recording of four primaries- sweet, salt, sour and bitter. It is likely that identification of different substances depends on binding different membrane receptors. No attempt was made to detect the taste buds histologically because of practical unfeasibility.

In all documented cases, including this case, the tongue rudiments, when present were mobile and should be encompassing innervated muscle. The normal musculature of the tongue is formed from the occipital somites. The occipital somites and their nerves migrate normally, but because of previous agenesis of first arch, they cannot form normal musculature. Sinclair had documented post-mortem findings of a patient with hypoglossia and found normal hypoglossal nerve during dissection in his patient. [3]

There is no definitive treatment for hypoglossia. Artificial tongues have been tried, but have not been successful. [13] Some authors have postulated skin grafting as a treatment for hypoglossia. [28] Few treatment modalities for micrognathia and malocclusion in patients with hypoglossia have been attempted. Fixed orthodontic appliances and distraction osteogenesis have been used. Yamada et al performed bone lengthening for midline mandibular hypoplasia and orthodontic treatment with satisfactory results in three cases of micrognathia and hypoglossia with constricted isthmus. [43] Therefore, a multidisciplinary approach of otolaryngologist, radiologist, orthodontist, speech therapist and maxillofacial surgeon should be planned on a long term basis, for improvement of patient's quality of life. Patient also requires dietetic guidance to prevent pasty foods from adhering to teeth.

In patients with hypoglossia, there are chances of potential sedation and anesthesia complications. Evaluation for upper airway obstruction or defects and neurologic impairment should be done prior to an anesthetic procedure for a major surgical process in these patients. Altered respiratory mechanics may also complicate an anesthetic management in this syndrome.

Genetic disorders pose a considerable challenge to health care providers. This is a result of changing medical practice, growing comprehension and identification of genetic diseases, modern medical advances, and increased longevity of patients with many genetic conditions. With increased prevalence of genetic diseases and with better detection, comes the need for comprehensive efforts of health care providers to meet the growing special needs of each patient. Allaying anxiety of these patients is an essential part of providing an adequate health care for patients with genetic diseases.

The present patient had a hypoplastic mandible, hypoglossia and constricted mandibular arch. These orofacial congenital anomalies may lead to poor facial esthetics and can possibly be affecting psychological and social development of patient. Patient was advised panoramic radiograph, but he refused any kind of radiological investigative procedure. Our patient was not willing for any kind of treatment regarding micrognathia as he was having no disruption in quality of life; and patient was lost for follow-up.

Patients with hypoglossia need to be managed with care as they may probably be having higher anxiety because of an obvious deformity. Airway obstruction, difficulties in swallowing and mastication might be encountered because of lack of tongue musculature, which usually helps in movement of food bolus. Poor oral hygiene, higher caries and periodontitis prevalence, speech difficulties and prosthodontic rehabilitation are other problems, which are often associated in patients with hypoglossia.

   Conclusion Top

The present case report described a 41 year old male with hypoplastic mandible, and hypoglossia with associated features of constricted and high arched palate. Hypoglossia is a rare congenital anomaly, particularly when found as an isolated abnormality. A clinical knowledge of changes in mechanism of mastication, swallowing, occlusion and speech requires a multidisciplinary team approach so that a further effective management can be organized. It is important for health care providers to recognize risk factors and potential complications before difficult extractions and surgical procedures. An accurate investigation protocol [Figure 5] has been attempted for patients having hypoglossia, considering the varying association with orofacial structures, limbs and internal visceral organs.
Figure 5: Investigative protocol for a patient with Hypoglossia

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   References Top

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Correspondence Address:
Gaurav Sharma
Sudha Rustagi Dental College, Faridabad, Haryana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0970-9290.100438

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  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]

  [Table 1], [Table 2]

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