U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Hypomature dental enamel

MedGen UID:
869122
•Concept ID:
C4023540
•
Finding
Synonyms: Immature tooth enamel; Soft teeth; Soft tooth enamel
 
HPO: HP:0011085

Definition

A form of hypomineralization of enamel characterized by a chalky appearance of the enamel with orange, brown, or white color. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypomature dental enamel

Conditions with this feature

Amelogenesis imperfecta hypomaturation type 2A3
MedGen UID:
416381
•Concept ID:
C2750771
•
Disease or Syndrome
Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene.
See: Condition Record
Amelogenesis imperfecta hypomaturation type 2A3

Professional guidelines

PubMed

AMELX Mutations and Genotype-Phenotype Correlation in X-Linked Amelogenesis Imperfecta.
Wang SK, Zhang H, Lin HC, Wang YL, Lin SC, Seymen F, Koruyucu M, Simmer JP, Hu JC
Int J Mol Sci 2024 Jun 1;25(11) doi: 10.3390/ijms25116132. PMID: 38892321Free PMC Article
Orthodontic findings and treatment need in patients with amelogenesis imperfecta: a descriptive analysis.
Möhlhenrich SC, Chhatwani S, Schmidt P, Kniha K, Postberg J, Schulte AG, Jackowski J, Zimmer S, Danesh G
Head Face Med 2024 Jun 14;20(1):36. doi: 10.1186/s13005-024-00436-y. PMID: 38877506Free PMC Article
Clinical diagnosis and management strategies of amelogenesis imperfectavariants.
Seow WK
Pediatr Dent 1993 Nov-Dec;15(6):384-93. PMID: 8152999

Recent clinical studies

Etiology

Novel Ameloblastin Variants, Contrasting Amelogenesis Imperfecta Phenotypes.
Hany U, Watson CM, Liu L, Nikolopoulos G, Smith CEL, Poulter JA, Brown CJ, Patel A, Rodd HD, Balmer R, Harfoush A, Al-Jawad M, Inglehearn CF, Mighell AJ
J Dent Res 2024 Jan;103(1):22-30. Epub 2023 Dec 6 doi: 10.1177/00220345231203694. PMID: 38058155Free PMC Article
Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta.
Adorno-Farias D, Ortega-Pinto A, Gajardo P, Salazar A, Morales-Bozo I, Werlinger F, Rojas-Flores S, Molina-Berríos A, Echeverría-López S, Jara-Sandoval J, Jara L, Urzúa B
J Appl Oral Sci 2019 Apr 1;27:e20180359. doi: 10.1590/1678-7757-2018-0359. PMID: 30970114Free PMC Article
Tooth enamel hypoplasia in PHACE syndrome.
Chiu YE, Siegel DH, Drolet BA, Hodgson BD
Pediatr Dermatol 2014 Jul-Aug;31(4):455-8. Epub 2014 Jun 11 doi: 10.1111/pde.12361. PMID: 24916277
Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.
Urzúa B, Ortega-Pinto A, Morales-Bozo I, Rojas-Alcayaga G, Cifuentes V
Biochem Genet 2011 Feb;49(1-2):104-21. Epub 2010 Dec 3 doi: 10.1007/s10528-010-9392-6. PMID: 21127961
Molecular genetics of ameloblast cell lineage.
Bei M
J Exp Zool B Mol Dev Evol 2009 Jul 15;312B(5):437-44. doi: 10.1002/jez.b.21261. PMID: 19090561Free PMC Article

Diagnosis

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977Free PMC Article
Molecular-based phenotype variations in amelogenesis imperfecta.
Dong J, Ruan W, Duan X
Oral Dis 2023 Sep;29(6):2334-2365. Epub 2023 May 8 doi: 10.1111/odi.14599. PMID: 37154292
Recessive Mutations in ACP4 Cause Amelogenesis Imperfecta.
Kim YJ, Lee Y, Kasimoglu Y, Seymen F, Simmer JP, Hu JC, Cho ES, Kim JW
J Dent Res 2022 Jan;101(1):37-45. Epub 2021 May 26 doi: 10.1177/00220345211015119. PMID: 34036831Free PMC Article
Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta.
Adorno-Farias D, Ortega-Pinto A, Gajardo P, Salazar A, Morales-Bozo I, Werlinger F, Rojas-Flores S, Molina-Berríos A, Echeverría-López S, Jara-Sandoval J, Jara L, Urzúa B
J Appl Oral Sci 2019 Apr 1;27:e20180359. doi: 10.1590/1678-7757-2018-0359. PMID: 30970114Free PMC Article
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Rey T, Tarabeux J, Gerard B, Delbarre M, Le Béchec A, Stoetzel C, Prasad M, Laugel-Haushalter V, Kawczynski M, Muller J, Chelly J, Dollfus H, Manière MC, Bloch-Zupan A
Methods Mol Biol 2019;1922:407-452. doi: 10.1007/978-1-4939-9012-2_36. PMID: 30838594

Therapy

Noninvasive esthetic treatment for hypomaturation amelogenesis imperfecta: a case report.
Nahsan FP, Silva LM, Lima TM, Bertocco VP, Chui FM, Martins LM
Gen Dent 2016 Nov-Dec;64(6):e6-e9. PMID: 27814261
Unusual extrinsic staining following microabrasion in a girl with amelogenesis imperfecta.
Rogers HJ, Yesudian G, Rodd HD
Eur Arch Paediatr Dent 2016 Aug;17(4):271-5. Epub 2015 Oct 27 doi: 10.1007/s40368-015-0214-8. PMID: 26508432
Case series: clinical findings and oral rehabilitation of patients with amelogenesis imperfecta.
Markovic D, Petrovic B, Peric T
Eur Arch Paediatr Dent 2010 Aug;11(4):201-8. doi: 10.1007/BF03262745. PMID: 20840832
Effect of computerized delivery intraligamental injection in primary molars on their corresponding permanent tooth buds.
Ashkenazi M, Blumer S, Eli I
Int J Paediatr Dent 2010 Jul;20(4):270-5. doi: 10.1111/j.1365-263X.2010.01049.x. PMID: 20536588
Ultrastructural study of tooth enamel with amelogenesis imperfecta in AI-nephrocalcinosis syndrome.
Phakey P, Palamara J, Hall RK, McCredie DA
Connect Tissue Res 1995;32(1-4):253-9. doi: 10.3109/03008209509013731. PMID: 7554924

Prognosis

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977Free PMC Article
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
Nikolopoulos G, Smith CEL, Poulter JA, Murillo G, Silva S, Lamb T, Berry IR, Brown CJ, Day PF, Soldani F, Al-Bahlani S, Harris SA, O'Connell MJ, Inglehearn CF, Mighell AJ
Hum Mutat 2021 May;42(5):567-576. Epub 2021 Mar 6 doi: 10.1002/humu.24187. PMID: 33600052
Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.
Rey T, Tarabeux J, Gerard B, Delbarre M, Le Béchec A, Stoetzel C, Prasad M, Laugel-Haushalter V, Kawczynski M, Muller J, Chelly J, Dollfus H, Manière MC, Bloch-Zupan A
Methods Mol Biol 2019;1922:407-452. doi: 10.1007/978-1-4939-9012-2_36. PMID: 30838594
Amelogenesis imperfecta: a clinician's challenge.
Chamarthi V, Varma BR, Jayanthi M
J Indian Soc Pedod Prev Dent 2012 Jan-Mar;30(1):70-3. doi: 10.4103/0970-4388.95587. PMID: 22565521
Globodontia in the otodental syndrome.
Witkop CJ Jr, Gundlach KK, Streed WJ, Sauk JJ Jr
Oral Surg Oral Med Oral Pathol 1976 Apr;41(4):472-83. doi: 10.1016/0030-4220(76)90275-9. PMID: 1063348

Clinical prediction guides

Splicing mutations in AMELX and ENAM cause amelogenesis imperfecta.
Zhang Z, Zou X, Feng L, Huang Y, Chen F, Sun K, Song Y, Lv P, Gao X, Dong Y, Tian H
BMC Oral Health 2023 Nov 20;23(1):893. doi: 10.1186/s12903-023-03508-8. PMID: 37985977Free PMC Article
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
Nikolopoulos G, Smith CEL, Poulter JA, Murillo G, Silva S, Lamb T, Berry IR, Brown CJ, Day PF, Soldani F, Al-Bahlani S, Harris SA, O'Connell MJ, Inglehearn CF, Mighell AJ
Hum Mutat 2021 May;42(5):567-576. Epub 2021 Mar 6 doi: 10.1002/humu.24187. PMID: 33600052
Gingival inflammation, enamel defects, and tooth sensitivity in children with amelogenesis imperfecta: a case-control study.
Quandalle C, Boillot A, Fournier B, Garrec P, DE LA Dure-Molla M, Kerner S
J Appl Oral Sci 2020;28:e20200170. Epub 2020 Sep 28 doi: 10.1590/1678-7757-2020-0170. PMID: 32997085Free PMC Article
Diversity of clinical, radiographic and genealogical findings in 41 families with amelogenesis imperfecta.
Adorno-Farias D, Ortega-Pinto A, Gajardo P, Salazar A, Morales-Bozo I, Werlinger F, Rojas-Flores S, Molina-Berríos A, Echeverría-López S, Jara-Sandoval J, Jara L, Urzúa B
J Appl Oral Sci 2019 Apr 1;27:e20180359. doi: 10.1590/1678-7757-2018-0359. PMID: 30970114Free PMC Article
WDR72 Mutations Associated with Amelogenesis Imperfecta and Acidosis.
Zhang H, Koruyucu M, Seymen F, Kasimoglu Y, Kim JW, Tinawi S, Zhang C, Jacquemont ML, Vieira AR, Simmer JP, Hu JCC
J Dent Res 2019 May;98(5):541-548. Epub 2019 Feb 19 doi: 10.1177/0022034518824571. PMID: 30779877Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...