| Macroglossia | |
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| Macroglossia with crenations along the margins and loss of papillae on dorsum surface of the tongue. | |
| Specialty | Medical genetics  |
Macroglossia is the medical term for an unusually large tongue. [1] Severe enlargement of the tongue can cause cosmetic and functional difficulties in speaking, eating, swallowing and sleeping. Macroglossia is uncommon, and usually occurs in children. There are many causes. Treatment depends upon the exact cause.
Although it may be asymptomatic, symptoms usually are more likely to be present and more severe with larger tongue enlargements. Signs and symptoms include:
A tongue that constantly protrudes from the mouth is vulnerable to drying out, ulceration, infection or even necrosis. [3]
Macroglossia may be caused by a wide variety of congenital and acquired conditions. Isolated macroglossia has no determinable cause. [5] The most common causes of tongue enlargement are vascular malformations (e.g. lymphangioma or hemangioma) and muscular hypertrophy (e.g. Beckwith–Wiedemann syndrome or hemihyperplasia). [3] Enlargement due to lymphangioma gives the tongue a pebbly appearance with multiple superficial dilated lymphatic channels. Enlargement due to hemihyperplasia is unilateral. In edentulous persons, a lack of teeth leaves more room for the tongue to expand into laterally, which can create problems with wearing dentures and may cause pseudomacroglossia.[ citation needed ]
Amyloidosis is an accumulation of insoluble proteins in tissues that impedes normal function. [6] This can be a cause of macroglossia if amyloid is deposited in the tissues of the tongue, which gives it a nodular appearance. Beckwith–Wiedemann syndrome is a rare hereditary condition, which may include other defects such as omphalocele, visceromegaly, gigantism or neonatal hypoglycemia. [7] The tongue may show a diffuse, smooth generalized enlargement. [3] The face may show maxillary hypoplasia causing relative mandibular prognathism. Apparent macroglossia can also occur in Down syndrome. [8] The tongue has a papillary, fissured surface. [3] Macroglossia may be a sign of hypothyroid disorders.
Other causes include mucopolysaccharidosis, [9] neurofibromatosis, [3] multiple endocrine neoplasia type 2B, [3] myxedema, [3] acromegaly, [3] angioedema, [3] tumors (e.g. carcinoma), [3] Glycogen storage disease type 2, [10] Simpson–Golabi–Behmel syndrome, [5] [11] Triploid syndrome,[ medical citation needed ] trisomy 4p,[ medical citation needed ] fucosidosis,[ medical citation needed ] alpha-mannosidosis, [12] Klippel–Trénaunay syndrome, [5] cardiofaciocutaneous syndrome, [5] Ras pathway disorders, [5] transient neonatal diabetes, [5] and lingual thyroid. [13]
Macroglossia is usually diagnosed clinically. [4] Sleep endoscopy and imaging may be used for assessment of obstructive sleep apnea. [2] The initial evaluation of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith–Wiedemann syndrome. [5]
The ICD-10 lists macroglossia under "other congenital malformations of the digestive system". Definitions of macroglossia have been proposed, including "a tongue that protrudes beyond the teeth during [the] resting posture" and "if there is an impression of a tooth on the lingual border when the patients slightly open their mouths". [5] Others have suggested there is no objective definition of what constitutes macroglossia. [14] Some propose a distinction between true macroglossia, when histologic abnormalities correlate with the clinical findings of tongue enlargement, and relative macroglossia, where histology does not provide a pathologic explanation for the enlargement. Common examples of true macroglossia are vascular malformations, muscular enlargement and tumors; whilst Down syndrome is an example of relative macroglossia. [14] Pseudomacryglossia refers to a tongue that is of normal size but gives a false impression of being too large in relation to adjacent anatomical structures. [4] The Myer classification subdivides macroglossia into generalized or localized. [5]
Treatment and prognosis of macroglossia depends upon its cause, and also upon the severity of the enlargement and symptoms it is causing. No treatment may be required for mild cases or cases with minimal symptoms. Speech therapy may be beneficial, or surgery to reduce the size of the tongue (reduction glossectomy). Treatment may also involve correction of orthodontic abnormalities that may have been caused by the enlarged tongue. [4] Treatment of any underlying systemic disease may be required, e.g. radiotherapy. [4]
Macroglossia is uncommon, and usually occurs in children. [3] Macroglossia has been reported to have a positive family history in 6% of cases. The National Organization of Rare Disorders lists macroglossia as a rare disease (fewer than 200,000 individuals in the US). [5]
Sleep apnea, British English sleep apnoea or sleep apnœa, is a sleep-related breathing disorder in which repetitive pauses in breathing, periods of shallow breathing, or collapse of the upper airway during sleep results in poor ventilation and sleep disruption. Each pause in breathing can last for a few seconds to a few minutes and occurs many times a night. A choking or snorting sound may occur as breathing resumes. Common symptoms include daytime sleepiness, snoring, and non restorative sleep despite adequate sleep time. Because the disorder disrupts normal sleep, those affected may experience sleepiness or feel tired during the day. It is often a chronic condition.
Macrocephaly is a condition in which circumference of the human head is abnormally large. It may be pathological or harmless, and can be a familial genetic characteristic. People diagnosed with macrocephaly will receive further medical tests to determine whether the syndrome is accompanied by particular disorders. Those with benign or familial macrocephaly are considered to have megalencephaly.
Mucopolysaccharidoses are a group of metabolic disorders caused by the absence or malfunctioning of lysosomal enzymes needed to break down molecules called glycosaminoglycans (GAGs). These long chains of sugar carbohydrates occur within the cells that help build bone, cartilage, tendons, corneas, skin and connective tissue. GAGs are also found in the fluids that lubricate joints.
Beckwith–Wiedemann syndrome is an overgrowth disorder usually present at birth, characterized by an increased risk of childhood cancer and certain congenital features. A minority (<15%) of cases of BWS are familial, meaning that a close relative may also have BWS, and parents of an affected child may be at increased risk of having other children with BWS. While children with BWS are at increased risk of childhood cancer, most children with BWS do not develop cancer and the vast majority of children who do develop cancer can be treated successfully.
Upper airway resistance syndrome (UARS) is a sleep disorder characterized by the narrowing of the airway that can cause disruptions to sleep. The symptoms include unrefreshing sleep, fatigue, sleepiness, chronic insomnia, and difficulty concentrating. UARS can be diagnosed by polysomnograms capable of detecting Respiratory Effort-related Arousals. It can be treated with lifestyle changes, functional orthodontics, surgery, mandibular repositioning devices or CPAP therapy. UARS is considered a variant of sleep apnea, although some scientists and doctors believe it to be a distinct disorder.
Obstructive sleep apnea (OSA) is the most common sleep-related breathing disorder and is characterized by recurrent episodes of complete or partial obstruction of the upper airway leading to reduced or absent breathing during sleep. These episodes are termed "apneas" with complete or near-complete cessation of breathing, or "hypopneas" when the reduction in breathing is partial. In either case, a fall in blood oxygen saturation, a disruption in sleep, or both, may result. A high frequency of apneas or hypopneas during sleep may interfere with the quality of sleep, which – in combination with disturbances in blood oxygenation – is thought to contribute to negative consequences to health and quality of life. The terms obstructive sleep apnea syndrome (OSAS) or obstructive sleep apnea–hypopnea syndrome (OSAHS) may be used to refer to OSA when it is associated with symptoms during the daytime.
Lymphatic malformations are benign slow-flow type of vascular malformation of the lymphatic system characterized by lymphatic vessels which do not connect to the normal lymphatic circulation.
Oral myology is the field of study that involves the evaluation and treatment of the oral and facial musculature, including the muscles of the tongue, lips, cheeks, and jaw.
Maxillomandibular advancement (MMA) or orthognathic surgery, also sometimes called bimaxillary advancement (Bi-Max), or maxillomandibular osteotomy (MMO), is a surgical procedure or sleep surgery which moves the upper jaw (maxilla) and the lower jaw (mandible) forward. The procedure was first used to correct deformities of the facial skeleton to include malocclusion. In the late 1970s advancement of the lower jaw was noted to improve sleepiness in three patients. Subsequently, maxillomandibular advancement was used for patients with obstructive sleep apnea.
Simpson–Golabi–Behmel syndrome (SGBS) is a rare inherited congenital disorder that can cause craniofacial, skeletal, vascular, cardiac, and renal abnormalities. There is a high prevalence of cancer associated in those with SGBS which includes wilms tumors, neuroblastoma, tumors of the adrenal gland, liver, lungs and abdominal organs. The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be carriers of the syndrome but may still express varying degrees of the phenotype, suffering mild to severe malady. Males experience a higher likelihood of fetal death.
Hypopnea is overly shallow breathing or an abnormally low respiratory rate. Hypopnea is defined by some to be less severe than apnea, while other researchers have discovered hypopnea to have a "similar if not indistinguishable impact" on the negative outcomes of sleep breathing disorders. In sleep clinics, obstructive sleep apnea syndrome or obstructive sleep apnea–hypopnea syndrome is normally diagnosed based on the frequent presence of apneas and/or hypopneas rather than differentiating between the two phenomena. Hypopnea is typically defined by a decreased amount of air movement into the lungs and can cause oxygen levels in the blood to drop. It commonly is due to partial obstruction of the upper airway.
Maroteaux–Lamy syndrome, or Mucopolysaccharidosis Type VI (MPS-VI), is an inherited disease caused by a deficiency in the enzyme arylsulfatase B (ARSB). ASRB is responsible for the breakdown of large sugar molecules called glycosaminoglycans. In particular, ARSB breaks down dermatan sulfate and chondroitin sulfate. Because people with MPS-VI lack the ability to break down these GAGs, these chemicals build up in the lysosomes of cells. MPS-VI is therefore a type of lysosomal storage disease.
Overgrowth syndromes in children constitute a group of rare disorders that are characterised by tissue hypertrophy. Individual overgrowth syndromes have been shown to overlap with regard to clinical and radiologic features. The details of the genetic bases of these syndromes are unfolding. Any of the three embryonic tissue layers may be involved. The syndromes may manifest in localized or generalized tissue overgrowth. Latitudinal and longitudinal growth may be affected. Nevertheless, the musculoskeletal features are central to the diagnosis of some syndromes such as Proteus syndrome.
Oral and maxillofacial pathology refers to the diseases of the mouth, jaws and related structures such as salivary glands, temporomandibular joints, facial muscles and perioral skin. The mouth is an important organ with many different functions. It is also prone to a variety of medical and dental disorders.
Coarse facial features is a constellation of facial features that are present in many inborn errors of metabolism.
Central sleep apnea (CSA) or central sleep apnea syndrome (CSAS) is a sleep-related disorder in which the effort to breathe is diminished or absent, typically for 10 to 30 seconds either intermittently or in cycles, and is usually associated with a reduction in blood oxygen saturation. CSA is usually due to an instability in the body's feedback mechanisms that control respiration. Central sleep apnea can also be an indicator of Arnold–Chiari malformation.
Perlman syndrome (PS), also known as nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome, is a rare overgrowth syndrome caused by autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial features, and increased risk for Wilms' tumor. The syndrome is associated with high neonatal mortality.
A sleep-related breathing disorder is a sleep disorder in which abnormalities in breathing occur during sleep that may or may not be present while awake. According to the International Classification of Sleep Disorders, sleep-related breathing disorders are classified as follows:
Sleep surgery is a surgery performed to treat sleep disordered breathing. Sleep disordered breathing is a spectrum of disorders that includes snoring, upper airway resistance syndrome, and obstructive sleep apnea. These surgeries are performed by surgeons trained in otolaryngology, oral maxillofacial surgery, and craniofacial surgery.
Xia-Gibbs syndrome, is genetic disorder caused by a heterozygous mutation in the AHDC1 gene on chromosome 1p36.
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