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Dentin dysplasia type I(DTDP1)

MedGen UID:
97996
Concept ID:
C0399379
Congenital Abnormality; Disease or Syndrome
Synonyms: DENTIN DYSPLASIA, SHIELDS TYPE I; Dentin dysplasia, type 1; Radicular dentin dysplasia
SNOMED CT: Radicular dentine dysplasia (109493006); Dentine dysplasia - Shield's type I (109493006); Rootless teeth (109493006); Dentin dysplasia, type I (109493006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SMOC2 (6q27)
 
Monarch Initiative: MONDO:0007436
OMIM®: 125400
Orphanet: ORPHA99789

Definition

In dentin dysplasia type I, both primary and secondary dentitions are affected. The color and general morphology of the teeth are usually normal, although they may be slightly opalescent and blue or brown. Teeth may be very mobile and exfoliate spontaneously because of inadequate root formation. On radiographs, the roots are short and may be more pointed than normal. Pulp chambers are usually absent except for a chevron-shaped remnant in the crown (Witkop, 1975). Root canals are usually absent. Periapical radiolucencies may be present at the apices of affected teeth, for reasons unknown. On light microscopic examination of the permanent teeth, the coronal dentin is normal, but further apically becomes irregular, fills the pulp chamber, and has a 'sand-dune' morphology. Scanning electron microscopic studies of the deciduous and permanent teeth have been reported (Sauk et al., 1972; Melnick et al., 1980). Subclassification of Dentin Dysplasia Type I O Carroll et al. (1991) and O Carroll and Duncan (1994) reviewed dentin dysplasia and proposed 4 subtypes of dentin dysplasia type I, which they designated as DD1a-d. In DD1a, there is complete obliteration of pulp chambers and no root development, with many periapical radiolucent areas. In DD1b, there are horizontal crescent-shaped radiolucent pulpal remnants and a few millimeters of root development, with many periapical radiolucent areas. DD1c shows 2 horizontal crescent-shaped radiolucent lines and significant but incomplete root development, with or without periapical radiolucent areas. DD1d is characterized by visible pulp chambers and oval pulp stones in the coronal third of the root canal with bulging of the root around the stones and few if any periapical radiolucent areas. The authors noted that the distinctions between the subtypes of DD1 were primarily useful clinically in terms of treatment options. [from OMIM]

Clinical features

From HPO
Enamel hypoplasia
MedGen UID:
3730
Concept ID:
C0011351
Disease or Syndrome
Developmental hypoplasia of the dental enamel.
Microdontia
MedGen UID:
66008
Concept ID:
C0240340
Congenital Abnormality
Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth.
Taurodontism
MedGen UID:
75596
Concept ID:
C0266039
Disease or Syndrome
Increased volume of dental pulp of permanent molar characterized by a crown body-root ratio equal or larger than 1:1 or an elongated pulp chambers and apical displacement of the bifurcation or trifurcation of the roots.
Periapical bone loss
MedGen UID:
343738
Concept ID:
C1852169
Finding
Radiolucency (reflecting a reduction in the bony substance) around the apex (the tip of the dental root).
Short dental root
MedGen UID:
437181
Concept ID:
C2678330
Finding
Tooth root length more than 2 SD below mean, or subjectively apparently decreased tooth root length.
Pulp obliteration
MedGen UID:
892424
Concept ID:
C4025057
Finding
Mineralized substance filling the entire dental pulp space.
Oligodontia
MedGen UID:
904670
Concept ID:
C4082304
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDentin dysplasia type I
Follow this link to review classifications for Dentin dysplasia type I in Orphanet.

Recent clinical studies

Etiology

Valladares Neto J, Rino Neto J, de Paiva JB
Dental Press J Orthod 2013 Nov-Dec;18(6):72-85. doi: 10.1590/s2176-94512013000600012. PMID: 24351153

Diagnosis

Buchanan GD, Tredoux S, Nel C, Gamieldien MY
Aust Endod J 2021 Aug;47(2):343-349. Epub 2020 Sep 22 doi: 10.1111/aej.12444. PMID: 32964546
Chen D, Li X, Lu F, Wang Y, Xiong F, Li Q
Oral Dis 2019 Mar;25(2):439-446. Epub 2018 Apr 10 doi: 10.1111/odi.12861. PMID: 29575674Free PMC Article
Perlea P, Dragomir C, Bodeanu A, Temelcea AN, Iliescu AA
Rom J Morphol Embryol 2018;59(1):359-365. PMID: 29940650
Xiong F, Ji Z, Liu Y, Zhang Y, Hu L, Yang Q, Qiu Q, Zhao L, Chen D, Tian Z, Shang X, Zhang L, Wei X, Liu C, Yu Q, Zhang M, Cheng J, Xiong J, Li D, Wu X, Yuan H, Zhang W, Xu X
Hum Mutat 2017 Jan;38(1):95-104. Epub 2016 Oct 19 doi: 10.1002/humu.23130. PMID: 27680507
Singh A, Gupta S, Yuwanati MB, Mhaske S
BMJ Case Rep 2013 Jun 27;2013 doi: 10.1136/bcr-2013-009403. PMID: 23814198Free PMC Article

Therapy

Da Rós Gonçalves L, Oliveira CA, Holanda R, Silva-Boghossian CM, Colombo AP, Maia LC, Feres-Filho EJ
J Periodontol 2008 Jul;79(7):1304-11. doi: 10.1902/jop.2008.070426. PMID: 18597615

Clinical prediction guides

Xiong F, Ji Z, Liu Y, Zhang Y, Hu L, Yang Q, Qiu Q, Zhao L, Chen D, Tian Z, Shang X, Zhang L, Wei X, Liu C, Yu Q, Zhang M, Cheng J, Xiong J, Li D, Wu X, Yuan H, Zhang W, Xu X
Hum Mutat 2017 Jan;38(1):95-104. Epub 2016 Oct 19 doi: 10.1002/humu.23130. PMID: 27680507
Pintor A, Alexandria A, Marques A, Abrahao A, Guedes F, Primo L
Ultrastruct Pathol 2015;39(4):281-5. Epub 2015 Apr 9 doi: 10.3109/01913123.2014.1002960. PMID: 25855887
Rocha CT, Nelson-Filho P, Silva LA, Assed S, Queiroz AM
Braz Dent J 2011;22(1):74-8. doi: 10.1590/s0103-64402011000100013. PMID: 21519653
Melnick M, Levin LS, Brady J
Oral Surg Oral Med Oral Pathol 1980 Oct;50(4):335-40. doi: 10.1016/0030-4220(80)90418-1. PMID: 6935585

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