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Congenital macroglossia

MedGen UID:: 3588
•Concept ID:: C0009677
•: Congenital Abnormality

Synonyms:	Enlarged tongue; Giant tongue
SNOMED CT:	Congenital hypertrophy of tongue (270516002); Congenital macroglossia (270516002)

Monarch Initiative:	MONDO:0007927
OMIM®:	153630
Orphanet:	ORPHA2430

Definition

Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650). [from OMIM]

Clinical features

From HPO

Macroglossia

MedGen UID:: 44236
•Concept ID:: C0024421
•: Disease or Syndrome

Increased length and width of the tongue.

See: Feature record | Search on this feature

Abnormality of head or neck
- Macroglossia

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCongenital macroglossia

Abnormality of the face
- Abnormality of the mouth
  - Abnormal oral morphology
    - Abnormal oral cavity morphology
      - Abnormal tongue morphology
        Macroglossia
        Congenital macroglossia

Follow this link to review classifications for Congenital macroglossia in Orphanet.

Professional guidelines

PubMed

Diagnosis and treatment of hypothyroidism in children.

LaFranchi S
Compr Ther 1987 Oct;13(10):20-30. PMID: 3315407

See all (1)

Recent clinical studies

Etiology

Two emerging phenotypes of atypical inclusion body myositis: illustrative cases.

Salam S, Morrow JM, Howard R, Miller JAL, Quinlivan RM, Machado PM
Clin Exp Rheumatol 2023 Mar;41(2):340-347. Epub 2023 Mar 1 doi: 10.55563/clinexprheumatol/jq7zxd. PMID: 36861744

Management of MACROGLOSSIA: Case Series and Suggested Algorithm.

Xu J, Roser SM, Avadhani V, Amin D, Melville JC
J Oral Maxillofac Surg 2023 Jan;81(1):107-119. Epub 2022 Sep 9 doi: 10.1016/j.joms.2022.09.003. PMID: 36207006

Macroglossia as the initial presentation of AL amyloidosis: review and updates in treatment.

Cherico AS, Rizvi A, Jayakrishnan T, Mewawalla P
BMJ Case Rep 2022 Jul 11;15(7) doi: 10.1136/bcr-2022-249737. PMID: 35817492 Free PMC Article

Macroglossia: A potentially severe complication of late-onset Pompe disease.

Dupé C, Lefeuvre C, Solé G, Behin A, Pottier C, Duval F, Carlier RY, Prigent H, Lacau St Guily J, Arrassi A, Taouagh N, Hamroun D, Nicolas G, Laforêt P
Eur J Neurol 2022 Jul;29(7):2121-2128. Epub 2022 Apr 1 doi: 10.1111/ene.15330. PMID: 35302691

Neonatal Macroglossia: Demographics, Cost of Care, and Associated Comorbidities.

Simmonds JC, Patel AK, Mildenhall NR, Mader NS, Scott AR
Cleft Palate Craniofac J 2018 Sep;55(8):1122-1129. Epub 2018 Mar 23 doi: 10.1177/1055665618760898. PMID: 29570380

See all (21)

Diagnosis

Two emerging phenotypes of atypical inclusion body myositis: illustrative cases.

Salam S, Morrow JM, Howard R, Miller JAL, Quinlivan RM, Machado PM
Clin Exp Rheumatol 2023 Mar;41(2):340-347. Epub 2023 Mar 1 doi: 10.55563/clinexprheumatol/jq7zxd. PMID: 36861744

Management of MACROGLOSSIA: Case Series and Suggested Algorithm.

Xu J, Roser SM, Avadhani V, Amin D, Melville JC
J Oral Maxillofac Surg 2023 Jan;81(1):107-119. Epub 2022 Sep 9 doi: 10.1016/j.joms.2022.09.003. PMID: 36207006

Macroglossia.

Li K, Hua H, Wei P
J Am Dent Assoc 2023 Apr;154(4):350-354. Epub 2022 Mar 24 doi: 10.1016/j.adaj.2022.02.006. PMID: 35339262

Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.

Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262

Macroglossia: A potentially severe complication of late-onset Pompe disease.

See all (26)

Therapy

Macroglossia: A potentially severe complication of late-onset Pompe disease.

Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.

Ainuz BY, Geisler EL, Hallac RR, Perez JK, Seaward JR, Kane AA
Cleft Palate Craniofac J 2022 Sep;59(9):1145-1154. Epub 2021 Aug 17 doi: 10.1177/10556656211036607. PMID: 34402311

The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study.

Sequera-Ramos L, Duffy KA, Fiadjoe JE, Garcia-Marcinkiewicz AG, Zhang B, Perate A, Kalish JM
Anesth Analg 2021 Dec 1;133(6):1559-1567. doi: 10.1213/ANE.0000000000005536. PMID: 33886515 Free PMC Article

Ptosis and macroglossia in a woman with systemic light-chain amyloidosis.

Hsiao PJ, Chang YC, Tsao YH, Wu KL, Kao YH, Chan JS, Wang CH, Lin YY, Chuu CP, Lin YS
Clin Chim Acta 2019 Jul;494:112-115. Epub 2019 Mar 21 doi: 10.1016/j.cca.2019.03.1624. PMID: 30905590

Congenital macroglossia.

Gupta OP
Arch Otolaryngol 1971 Apr;93(4):378-83. doi: 10.1001/archotol.1971.00770060570005. PMID: 5548986

See all (8)

Prognosis

The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study.

The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome.

Cohen JL, Cielo CM, Kupa J, Duffy KA, Hathaway ER, Kalish JM, Taylor JA
Plast Reconstr Surg 2020 Apr;145(4):803e-813e. doi: 10.1097/PRS.0000000000006673. PMID: 32221229 Free PMC Article

Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome.

Han HH, Kim JH, Seo BF, Moon SH, Oh DY, Rhie JW
J Craniofac Surg 2014 Nov;25(6):e588-90. doi: 10.1097/SCS.0000000000001070. PMID: 25376137

Congenital macroglossia: surgical and orthodontic management.

Farronato G, Salvadori S, Giannini L, Maspero C
Prog Orthod 2012 May;13(1):92-8. Epub 2011 Jul 23 doi: 10.1016/j.pio.2011.06.003. PMID: 22583592

Giant macroglossia with persistent nonocclusion in a neonate.

Okoro PE, Akadiri OA
Afr J Paediatr Surg 2011 May-Aug;8(2):229-31. doi: 10.4103/0189-6725.86070. PMID: 22005373

See all (6)

Clinical prediction guides

Massive macroglossia, a rare side effect of COVID-19: clinical, histologic, and genomic findings in COVID-19-positive versus COVID-19-negative patients.

Mañón VA, Chubb D, Farach LS, Karam R, Farach-Carson MC, Vigneswaran N, Saluja K, Young S, Wong M, Melville JC
Oral Maxillofac Surg 2022 Dec;26(4):613-618. Epub 2022 Jan 3 doi: 10.1007/s10006-021-01031-0. PMID: 34981214 Free PMC Article

Anterior "W" Tongue Reduction for Macroglossia in Beckwith-Wiedemann Syndrome.

Ainuz BY, Geisler EL, Hallac RR, Perez JK, Seaward JR, Kane AA
Cleft Palate Craniofac J 2022 Sep;59(9):1145-1154. Epub 2021 Aug 17 doi: 10.1177/10556656211036607. PMID: 34402311

The Prevalence of Difficult Airway in Children With Beckwith-Wiedemann Syndrome: A Retrospective Cohort Study.

Huge nasopharyngeal teratoma with a cleft palate and bifid tongue in a patient with pierre robin syndrome.

Han HH, Kim JH, Seo BF, Moon SH, Oh DY, Rhie JW
J Craniofac Surg 2014 Nov;25(6):e588-90. doi: 10.1097/SCS.0000000000001070. PMID: 25376137

See all (4)

Recent systematic reviews

Comprehensive review of the timing of surgical management of macroglossia in Beckwith-Wiedemann syndrome.

Kizek P, Glinska KK, Riznic M, Borza B, Schwartzova V, Kotulicova Z
Bratisl Lek Listy 2024;125(1):33-37. doi: 10.4149/BLL_2024_006. PMID: 38041843

Etiological diagnosis of macroglossia: Systematic review and diagnostic algorithm.

Dietrich E, Grimaux X, Martin L, Samimi M
Ann Dermatol Venereol 2022 Dec;149(4):228-237. Epub 2022 Oct 11 doi: 10.1016/j.annder.2022.03.011. PMID: 36229262

See all (2)

MedGen

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Congenital macroglossia

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

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Table of contents

Clinical resources

Practice guidelines

Molecular resources

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