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Eruption failure

MedGen UID:
11856
Concept ID:
C0040458
Finding; Finding
Synonyms: Teeth, Unerupted; Tooth, Unerupted; Unerupted Teeth; Unerupted Tooth
SNOMED CT: Tooth unerupted (278658009); Unerupted tooth (278658009); UE - Tooth unerupted (278658009)
 
HPO: HP:0000706

Definition

A tooth which does not erupt within the teeth eruption timeline and after the loss of eruption potential. [from HPO]

Conditions with this feature

GAPO syndrome
MedGen UID:
98034
Concept ID:
C0406723
Disease or Syndrome
GAPO syndrome is the acronymic designation for a complex of growth retardation, alopecia, pseudoanodontia (failure of tooth eruption), and progressive optic atrophy (Tipton and Gorlin, 1984). Ilker et al. (1999) and Bayram et al. (2014) noted that optic atrophy is not a consistent feature of the disorder.
Osteoglophonic dysplasia
MedGen UID:
96592
Concept ID:
C0432283
Congenital Abnormality
Osteoglophonic dysplasia (OGD) is characterized by rhizomelic dwarfism, nonossifying bone lesions, craniosynostosis, prominent supraorbital ridge, and depressed nasal bridge (summary by White et al., 2005).
Eiken syndrome
MedGen UID:
325097
Concept ID:
C1838779
Congenital Abnormality
Eiken syndrome (EKNS) is an autosomal recessive skeletal dysplasia characterized by delayed ossification of bones, epiphyseal dysplasia, and bone remodeling abnormalities. Type A1 brachydactyly (see 112500), supernumerary epiphyses of proximal phalanges and metacarpals, and failure of eruption of primary teeth have also been described. Defining radiologic features include delayed ossification of epiphyses and primary ossification centers of short tubular bones, modeling abnormalities of tubular bones, and angel-shaped phalanges (Jacob et al., 2019). See 603740 for a disorder with similar radiologic features.
Familial adenomatous polyposis 1
MedGen UID:
398651
Concept ID:
C2713442
Disease or Syndrome
APC-associated polyposis conditions include (classic or attenuated) familial adenomatous polyposis (FAP) and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). FAP is a colorectal cancer (CRC) predisposition syndrome that can manifest in either classic or attenuated form. Classic FAP is characterized by hundreds to thousands of adenomatous colonic polyps, beginning on average at age 16 years (range 7-36 years). For those with the classic form of FAP, 95% of individuals have polyps by age 35 years; CRC is inevitable without colectomy. The mean age of CRC diagnosis in untreated individuals is 39 years (range 34-43 years). The attenuated form is characterized by multiple colonic polyps (average of 30), more proximally located polyps, and a diagnosis of CRC at a later age than in classic FAP. For those with an attenuated form, there is a 70% lifetime risk of CRC and the mean age of diagnosis is 50-55 years. Extracolonic manifestations are variably present and include polyps of the stomach and duodenum, osteomas, dental abnormalities, congenital hypertrophy of the retinal pigment epithelium (CHRPE), benign cutaneous lesions, desmoid tumors, adrenal masses, and other associated cancers. GAPPS is characterized by proximal gastric polyposis, increased risk of gastric adenocarcinoma, and no duodenal or colonic involvement in most individuals reported.
Singleton-Merten syndrome 1
MedGen UID:
899946
Concept ID:
C4225427
Disease or Syndrome
Singleton-Merten syndrome (SGMRT) is an uncommon autosomal dominant disorder characterized by abnormalities of blood vessels, teeth, and bone. Calcifications of the aorta and aortic and mitral valves occur in childhood or puberty and can lead to early death. Dental findings include delayed primary tooth exfoliation and permanent tooth eruption, truncated tooth root formation, early-onset periodontal disease, and severe root and alveolar bone resorption associated with dysregulated mineralization, leading to tooth loss. Osseous features consist of osteoporosis, either generalized or limited to distal extremities, distal limb osteolysis, widened medullary cavities, and easy tearing of tendons from bone. Less common features are mild facial dysmorphism (high anterior hair line, broad forehead, smooth philtrum, thin upper vermilion border), generalized muscle weakness, psoriasis, early-onset glaucoma, and recurrent infections. The disorder manifests with variable inter- and intrafamilial phenotypes (summary by Rutsch et al., 2015). Genetic Heterogeneity of Singleton-Merten Syndrome An atypical form of Singleton-Merten syndrome (SGMRT2; 616298) is caused by mutation in the DDX58 gene (609631) on chromosome 9p21.
Marbach-Rustad progeroid syndrome
MedGen UID:
1784907
Concept ID:
C5543388
Disease or Syndrome
Marbach-Rustad progeroid syndrome (MARUPS) is characterized by progeroid appearance with little subcutaneous fat and triangular facies, growth retardation with short stature, hypoplastic mandible crowded with unerupted supernumerary teeth, and cerebellar intention tremor. Psychomotor development is normal. Although features are reminiscent of Hutchinson-Gilford progeria syndrome (HGPS; 176670), MARUPS is less severe, with a relatively good prognosis. Two patients have been reported (Marbach et al., 2019).

Professional guidelines

PubMed

Thuaire A, Delebarre H, Marsili L, Colson C, Vanlerberghe C, Lauwers L, Raoul G, Touzet-Roumazeille S, Ferri J
J Craniofac Surg 2024 Mar-Apr 01;35(2):e209-e213. Epub 2024 Feb 1 doi: 10.1097/SCS.0000000000009963. PMID: 38299863
Iatrou I, Vardas E, Theologie-Lygidakis N, Leventis M
J Oral Sci 2010 Sep;52(3):439-47. doi: 10.2334/josnusd.52.439. PMID: 20881338
Frazier-Bowers SA, Simmons D, Wright JT, Proffit WR, Ackerman JL
Am J Orthod Dentofacial Orthop 2010 Feb;137(2):160.e1-7; discussion 160-1. doi: 10.1016/j.ajodo.2009.10.019. PMID: 20152661

Recent clinical studies

Etiology

Wongbanthit Y, Rojvachiranonda N, Chantarangsu S, Suwanwitid P, Kamolvisit W, Porntaveetus T
BMC Oral Health 2024 Jul 8;24(1):767. doi: 10.1186/s12903-024-04540-y. PMID: 38978035Free PMC Article
Thuaire A, Delebarre H, Marsili L, Colson C, Vanlerberghe C, Lauwers L, Raoul G, Touzet-Roumazeille S, Ferri J
J Craniofac Surg 2024 Mar-Apr 01;35(2):e209-e213. Epub 2024 Feb 1 doi: 10.1097/SCS.0000000000009963. PMID: 38299863
Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Boffano P, Zavattero E, Roccia F, Gallesio C
J Craniofac Surg 2012 May;23(3):685-8. doi: 10.1097/SCS.0b013e31824dba1f. PMID: 22565876
Golan I, Baumert U, Hrala BP, Müssig D
Dentomaxillofac Radiol 2003 Nov;32(6):347-54. doi: 10.1259/dmfr/63490079. PMID: 15070835

Diagnosis

Safavi M, Mohammadi F
Fetal Pediatr Pathol 2023 Apr;42(2):281-284. Epub 2022 Jun 24 doi: 10.1080/15513815.2022.2088910. PMID: 35748698
Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Frazier-Bowers SA, Hendricks HM, Wright JT, Lee J, Long K, Dibble CF, Bencharit S
J Dent Res 2014 Feb;93(2):134-9. Epub 2013 Dec 3 doi: 10.1177/0022034513513588. PMID: 24300310Free PMC Article
Boffano P, Zavattero E, Roccia F, Gallesio C
J Craniofac Surg 2012 May;23(3):685-8. doi: 10.1097/SCS.0b013e31824dba1f. PMID: 22565876
Frazier-Bowers SA, Simmons D, Wright JT, Proffit WR, Ackerman JL
Am J Orthod Dentofacial Orthop 2010 Feb;137(2):160.e1-7; discussion 160-1. doi: 10.1016/j.ajodo.2009.10.019. PMID: 20152661

Therapy

Yonemochi H, Noda T, Saku T
J Oral Pathol Med 1998 Oct;27(9):441-52. doi: 10.1111/j.1600-0714.1998.tb01982.x. PMID: 9790098

Prognosis

Kim J, Jung S, Lee KJ, Yu HS, Park W
BMC Oral Health 2024 Feb 20;24(1):254. doi: 10.1186/s12903-024-03963-x. PMID: 38378499Free PMC Article
Leske AM, Garg K
Int J Paediatr Dent 2023 Nov;33(6):563-566. Epub 2023 Apr 20 doi: 10.1111/ipd.13067. PMID: 37017453
Tsurumi Y, Nishimura K, Shimizu M, Imai Y, Igarashi K
Sci Rep 2022 May 20;12(1):8558. doi: 10.1038/s41598-022-12565-y. PMID: 35595867Free PMC Article
Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Frazier-Bowers SA, Hendricks HM, Wright JT, Lee J, Long K, Dibble CF, Bencharit S
J Dent Res 2014 Feb;93(2):134-9. Epub 2013 Dec 3 doi: 10.1177/0022034513513588. PMID: 24300310Free PMC Article

Clinical prediction guides

Kim J, Jung S, Lee KJ, Yu HS, Park W
BMC Oral Health 2024 Feb 20;24(1):254. doi: 10.1186/s12903-024-03963-x. PMID: 38378499Free PMC Article
Moirangthem A, Narayanan DL, Jacob P, Nishimura G, Mortier G, Girisha KM
Clin Genet 2018 Nov;94(5):457-460. Epub 2018 Jul 27 doi: 10.1111/cge.13413. PMID: 29987841
Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Proffit WR, Frazier-Bowers SA
Orthod Craniofac Res 2009 May;12(2):59-66. doi: 10.1111/j.1601-6343.2009.01438.x. PMID: 19419448
Frazier-Bowers SA, Koehler KE, Ackerman JL, Proffit WR
Am J Orthod Dentofacial Orthop 2007 May;131(5):578.e1-11. doi: 10.1016/j.ajodo.2006.09.038. PMID: 17482073

Recent systematic reviews

Hanisch M, Hanisch L, Kleinheinz J, Jung S
Head Face Med 2018 Mar 15;14(1):5. doi: 10.1186/s13005-018-0163-7. PMID: 29544499Free PMC Article
Golan I, Baumert U, Hrala BP, Müssig D
Dentomaxillofac Radiol 2003 Nov;32(6):347-54. doi: 10.1259/dmfr/63490079. PMID: 15070835

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