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Glossoptosis

MedGen UID:
78623
Concept ID:
C0267048
Disease or Syndrome; Finding
Synonym: Glossoptoses
SNOMED CT: Glossoptosis (3639002)
 
HPO: HP:0000162

Definition

Posterior displacement of the tongue into the pharynx, i.e., a tongue that is mislocalised posteriorly. [from HPO]

Term Hierarchy

Conditions with this feature

Isolated Pierre-Robin syndrome
MedGen UID:
19310
Concept ID:
C0031900
Congenital Abnormality
Pierre Robin sequence is a craniofacial anomaly comprising mandibular hypoplasia, cleft secondary palate, and glossoptosis leading to life-threatening obstructive apnea and feeding difficulaties during the neonatal period (summary by Tan et al., 2013).
Marshall-Smith syndrome
MedGen UID:
75551
Concept ID:
C0265211
Disease or Syndrome
The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).
Cerebro-costo-mandibular syndrome
MedGen UID:
120537
Concept ID:
C0265342
Disease or Syndrome
Cerebrocostomandibular syndrome (CCMS) is characterized mainly by severe micrognathia, rib defects, and mental retardation. A spectrum of rib gap defects have been reported ranging from a few dorsal rib segments to complete absence of ossification. In about half of the 65 reported cases to date, there is cerebral involvement including mental retardation, microcephaly, and histologic anomalies. Both autosomal dominant and autosomal recessive forms of the disorder have been described (Zeevaert et al., 2009). See CDG2G (611209) for a cerebrocostomandibular-like syndrome.
TARP syndrome
MedGen UID:
333324
Concept ID:
C1839463
Disease or Syndrome
The classic features of TARP syndrome are talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava. Not all patients have all classic features. Some patients have the additional features of central nervous system dysfunction, renal abnormalities, variable cardiac anomalies including hypertrophic obstructive cardiomyopathy, and variable distal limb defects including syndactyly. Most patients die in late prenatal or early postnatal stages (summary by Kaeppler et al., 2018).
Catel-Manzke syndrome
MedGen UID:
375536
Concept ID:
C1844887
Disease or Syndrome
Catel-Manzke syndrome is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger (summary by Manzke et al., 2008).
COG1 congenital disorder of glycosylation
MedGen UID:
443957
Concept ID:
C2931011
Disease or Syndrome
An extremely rare form of carbohydrate deficient glycoprotein syndrome with, in the few cases reported to date, variable signs including microcephaly, growth retardation, psychomotor retardation and facial dysmorphism.
Pierre Robin syndrome-faciodigital anomaly syndrome
MedGen UID:
443969
Concept ID:
C2931064
Disease or Syndrome
The association of Pierre Robin sequence (retrognathia, cleft palate and glossoptosis), facial dysmorphism (high forehead with frontal bossing) and digital anomalies (tapering fingers, hyper convex nails, clinodactyly of the fifth fingers and short distal phalanges, finger-like thumbs and easily subluxated first metacarpophalangeal joints). Growth and mental development are normal. It has been described in two half brothers born to the same mother. Transmission appears to be X-linked recessive.
Chromosome 16p12.2-p11.2 deletion syndrome
MedGen UID:
462208
Concept ID:
C3150858
Disease or Syndrome
The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. Additional features, such as heart defects and short stature, are variable (Ballif et al., 2007; Battaglia et al., 2009). The pericentric region of chromosome 16, specifically involving 16p12-p11, is a structurally complex region enriched in repetitive sequence elements, rendering this region susceptible to deletion or rearrangement (Ballif et al., 2007). There are several phenotypes associated with variation in this region: see 611913 for a deletion or duplication at 16p11.2 associated with autism; see 136570 for discussion of a recurrent 520-kb deletion at 16p12.1 associated with developmental delay and craniofacial dysmorphism; and see 613444 for a 220-kb deletion at 16p11.2 associated with isolated severe early-onset obesity and obesity with developmental delay. Battaglia et al. (2009) emphasized that the region at chromosome 16p11.2 that confers susceptibility to autism (AUTS14; see 611913) is located more centromeric to and is distinct from the 16p12.2-p11.2 region involved in the multiple congenital anomalies and intellectual disability phenotype.
Auriculocondylar syndrome 2
MedGen UID:
766318
Concept ID:
C3553404
Disease or Syndrome
Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is a craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012). For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).
Peroxisome biogenesis disorder 8A (Zellweger)
MedGen UID:
766873
Concept ID:
C3553959
Disease or Syndrome
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 9 (CG9, equivalent to CGD) have mutations in the PEX16 gene. For information on the history of PBD complementation groups, see 214100.
Auriculocondylar syndrome 3
MedGen UID:
816662
Concept ID:
C3810332
Disease or Syndrome
Auriculocondylar syndrome (ARCND) is a rare craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia, prominent cheeks, and question mark ears (QMEs). QMEs consist of a defect between the lobe and the upper two-thirds of the pinna, ranging from a mild indentation in the helix to a complete cleft between the lobe and helix (summary by Gordon et al., 2013). For a general phenotypic description and discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).
Mandibulofacial dysostosis with alopecia
MedGen UID:
898794
Concept ID:
C4225349
Disease or Syndrome
A rare mandibulofacial dysostosis with the association with scalp alopecia and sparse eyebrows and eyelashes. Craniofacial dysmorphic features include zygomatic and mandibular dysplasia or hypoplasia, cleft palate, micrognathia, dental anomalies, auricular dysmorphism and eyelid anomalies among others. Patients may experience limited jaw mobility, glossoptosis, upper airway obstruction and conductive hearing loss.
Auriculocondylar syndrome 1
MedGen UID:
1639644
Concept ID:
C4551996
Disease or Syndrome
Abnormalities of the mandible are another characteristic feature of auriculo-condylar syndrome. These abnormalities often include an unusually small chin (micrognathia) and malfunction of the temporomandibular joint (TMJ), which connects the lower jaw to the skull. Problems with the TMJ affect how the upper and lower jaws fit together and can make it difficult to open and close the mouth. The term "condylar" in the name of the condition refers to the mandibular condyle, which is the upper portion of the mandible that forms part of the TMJ.\n\nOther features of auriculo-condylar syndrome can include prominent cheeks, an unusually small mouth (microstomia), differences in the size and shape of facial structures between the right and left sides of the face (facial asymmetry), and an opening in the roof of the mouth (cleft palate). These features vary, even among affected members of the same family.\n\nMost people with auriculo-condylar syndrome have malformed outer ears ("auriculo-" refers to the ears). A hallmark of this condition is an ear abnormality called a "question-mark ear," in which the ears have a distinctive question-mark shape caused by a split that separates the upper part of the ear from the earlobe. Other ear abnormalities that can occur in auriculo-condylar syndrome include cupped ears, ears with fewer folds and grooves than usual (described as "simple"), narrow ear canals, small skin tags in front of or behind the ears, and ears that are rotated backward. Some affected individuals also have hearing loss.\n\nAuriculo-condylar syndrome is a condition that affects facial development, particularly development of the ears and lower jaw (mandible).
Tetraamelia syndrome 2
MedGen UID:
1648284
Concept ID:
C4747923
Disease or Syndrome
Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia (Szenker-Ravi et al., 2018). For a discussion of genetic heterogeneity of TETAMS, see 273395.
Neurodevelopmental disorder with central and peripheral motor dysfunction
MedGen UID:
1674767
Concept ID:
C5193049
Disease or Syndrome
Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers (summary by Monfrini et al., 2019).
Carey-Fineman-Ziter syndrome 1
MedGen UID:
1804638
Concept ID:
C5676876
Disease or Syndrome
Carey-Fineman-Ziter syndrome-1 (CFZS1) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS1 may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS1 represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. Genetic Heterogeneity of Carey-Fineman-Ziter Syndrome Carey-Fineman-Ziter syndrome-2 (CFZS2) is caused by mutation in the MYMX gene (619912) on chromosome 6p21.
Leukodystrophy, hypomyelinating, 26, with chondrodysplasia
MedGen UID:
1840948
Concept ID:
C5830312
Disease or Syndrome
Hypomyelinating leukodystrophy-26 with chondrodysplasia (HLD26) is characterized by severe psychomotor delay, predominantly involving motor and expressive language development, with cerebral and cerebellar atrophy and corpus callosum hypoplasia. In addition, patients show pre- and postnatal growth retardation, early-onset scoliosis, and dislocations of large joints (Guasto et al., 2022). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see HLD1 (312080).
Auriculocondylar syndrome 4
MedGen UID:
1841295
Concept ID:
C5830659
Disease or Syndrome
Auriculocondylar syndrome-4 (ARCND4) is characterized by malformed ears, round face, puffy cheeks, micrognathia, microstomia, malocclusion, and abnormal mandibular condyles with temporomandibular joint abnormalities. Patients may also experience conductive hearing loss (Masotti et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (602483).

Professional guidelines

PubMed

Weaver KN, Sullivan BR, Balow SA, Hopkin S, Chini BA, Pan BS, Stottmann RW, Bender PL, Hopkin RJ, Zhang X, Saal HM
Am J Med Genet A 2022 Jan;188(1):160-177. Epub 2021 Sep 27 doi: 10.1002/ajmg.a.62515. PMID: 34569146
Gómez OJ, Barón OI, Peñarredonda ML
J Craniofac Surg 2018 Mar;29(2):332-338. doi: 10.1097/SCS.0000000000004178. PMID: 29215441
Mackay DR
J Craniofac Surg 2011 Mar;22(2):415-20. doi: 10.1097/SCS.0b013e3182074799. PMID: 21403570

Recent clinical studies

Etiology

Poets CF, Wiechers C, Koos B, Muzaffar AR, Gozal D
Pediatr Pulmonol 2022 Aug;57(8):1887-1896. Epub 2021 Mar 1 doi: 10.1002/ppul.25317. PMID: 33580741
Breugem CC, Logjes RJH, Nolte JW, Flores RL
Semin Fetal Neonatal Med 2021 Dec;26(6):101283. Epub 2021 Sep 21 doi: 10.1016/j.siny.2021.101283. PMID: 34663561
Diep GK, Eisemann BS, Flores RL
J Craniofac Surg 2020 Jun;31(4):1137-1141. doi: 10.1097/SCS.0000000000006343. PMID: 32209938
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Tan HL, Kheirandish-Gozal L, Abel F, Gozal D
Sleep Med Rev 2016 Jun;27:74-88. Epub 2015 Jun 6 doi: 10.1016/j.smrv.2015.05.010. PMID: 26454241Free PMC Article

Diagnosis

Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891
Hsieh ST, Woo AS
Clin Plast Surg 2019 Apr;46(2):249-259. Epub 2019 Feb 8 doi: 10.1016/j.cps.2018.11.010. PMID: 30851756
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Papagrigorakis MJ, Karamolegou M, Vilos G, Apostolidis C, Karamesinis K, Synodinos PN
Angle Orthod 2012 May;82(3):556-64. Epub 2011 Nov 3 doi: 10.2319/052911-356.1. PMID: 22050072Free PMC Article

Therapy

Wright M, Cortina-Borja M, Knowles R, Urquhart DS
Eur Respir Rev 2023 Dec 31;32(170) Epub 2023 Dec 6 doi: 10.1183/16000617.0133-2023. PMID: 38056889Free PMC Article
Garcia-Marcinkiewicz AG, Lee LK, Haydar B, Fiadjoe JE, Matava CT, Kovatsis PG, Peyton J, Stein ML, Park R, Taicher BM, Templeton TW; PeDI Collaborative
Br J Anaesth 2023 Jul;131(1):178-187. Epub 2023 Apr 17 doi: 10.1016/j.bja.2023.02.035. PMID: 37076335
Goto S, Ishikawa JY, Idei M, Nomura T
Am J Respir Crit Care Med 2022 Jan 15;205(2):e4-e5. doi: 10.1164/rccm.202104-0820IM. PMID: 34233143
Poets CF, Abadie V, Breugem C, Wallis C, Abel F, Chalouhi C, Kruisinga F, Sorg AL, Wiechers C
Semin Fetal Neonatal Med 2021 Dec;26(6):101289. Epub 2021 Sep 17 doi: 10.1016/j.siny.2021.101289. PMID: 34548245
Morrison KA, Collares MV, Flores RL
Clin Plast Surg 2021 Jul;48(3):363-373. Epub 2021 May 8 doi: 10.1016/j.cps.2021.03.005. PMID: 34051891

Prognosis

Manica D, Schweiger C
Semin Fetal Neonatal Med 2021 Dec;26(6):101293. Epub 2021 Sep 20 doi: 10.1016/j.siny.2021.101293. PMID: 34561176
Insalaco LF, Scott AR
Clin Perinatol 2018 Dec;45(4):717-735. Epub 2018 Aug 28 doi: 10.1016/j.clp.2018.07.009. PMID: 30396414
Logjes RJH, Breugem CC, Van Haaften G, Paes EC, Sperber GH, van den Boogaard MH, Farlie PG
Am J Med Genet A 2018 Jun;176(6):1349-1368. Epub 2018 Apr 25 doi: 10.1002/ajmg.a.38718. PMID: 29696787
Schweiger C, Manica D, Kuhl G
Semin Pediatr Surg 2016 Jun;25(3):123-7. Epub 2016 Feb 18 doi: 10.1053/j.sempedsurg.2016.02.002. PMID: 27301596
Silverman FN, Strefling AM, Stevenson DK, Lazarus J
J Pediatr 1980 Sep;97(3):406-16. doi: 10.1016/s0022-3476(80)80190-9. PMID: 7411303

Clinical prediction guides

Wang Y, Wang Y, Yao M, Chen L, Wu S, Liu Y
Int J Gynaecol Obstet 2023 Dec;163(3):778-781. Epub 2023 May 25 doi: 10.1002/ijgo.14881. PMID: 37231986
Manica D, Schweiger C
Semin Fetal Neonatal Med 2021 Dec;26(6):101293. Epub 2021 Sep 20 doi: 10.1016/j.siny.2021.101293. PMID: 34561176
Manica D, Schweiger C, Sekine L, Fagondes SC, Kuhl G, Collares MV, Marostica PJ
J Craniomaxillofac Surg 2017 Feb;45(2):210-215. Epub 2016 Nov 22 doi: 10.1016/j.jcms.2016.11.008. PMID: 28011184
Evans KN, Sie KC, Hopper RA, Glass RP, Hing AV, Cunningham ML
Pediatrics 2011 May;127(5):936-48. Epub 2011 Apr 4 doi: 10.1542/peds.2010-2615. PMID: 21464188Free PMC Article
Plötz FB, van Essen AJ, Bosschaart AN, Bos AP
Am J Med Genet 1996 Mar 29;62(3):286-92. doi: 10.1002/(SICI)1096-8628(19960329)62:3<286::AID-AJMG16>3.0.CO;2-G. PMID: 8882789

Recent systematic reviews

Wright M, Cortina-Borja M, Knowles R, Urquhart DS
Eur Respir Rev 2023 Dec 31;32(170) Epub 2023 Dec 6 doi: 10.1183/16000617.0133-2023. PMID: 38056889Free PMC Article
Yekula A, Grant C, Gupta M, Santiago-Dieppa DR, Duddleston PJ, Gonda D, Levy M
Childs Nerv Syst 2020 Jul;36(7):1367-1377. Epub 2020 May 12 doi: 10.1007/s00381-020-04642-2. PMID: 32399800Free PMC Article
Manica D, Schweiger C, Sekine L, Fagondes SC, Kuhl G, Collares MV, Marostica PJ
J Craniomaxillofac Surg 2017 Feb;45(2):210-215. Epub 2016 Nov 22 doi: 10.1016/j.jcms.2016.11.008. PMID: 28011184
Viezel-Mathieu A, Safran T, Gilardino MS
J Craniofac Surg 2016 Sep;27(6):1453-6. doi: 10.1097/SCS.0000000000002721. PMID: 27548826
Price KE, Haddad Y, Fakhouri WD
Cleft Palate Craniofac J 2016 Mar;53(2):e34-44. Epub 2015 Feb 6 doi: 10.1597/14-238. PMID: 25658963

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