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Tricho-dento-osseous syndrome(TDO)

MedGen UID:
78555
Concept ID:
C0265333
Disease or Syndrome
Synonyms: Enamel hypoplasia and hypocalcification with associated strikingly curly hair; TDO; TDO syndrome
SNOMED CT: TDO - Trichodento-osseous syndrome (38993008); Trichodento-osseous syndrome (38993008); Tricho-dento-osseous syndrome (38993008); TDO syndrome (38993008); Amelogenesis imperfecta - osteosclerosis syndrome (38993008); Taurodontism - curly hair - osteosclerosis syndrome (38993008)
Modes of inheritance:
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): DLX3 (17q21.33)
 
Monarch Initiative: MONDO:0008592
OMIM®: 190320
Orphanet: ORPHA3352

Definition

Trichodentoosseous syndrome (TDO) is an autosomal dominant disorder with complete penetrance characterized by abnormalities involving hair, teeth, and bone (summary by Nguyen et al., 2013). [from OMIM]

Clinical features

From HPO
Increased bone mineral density
MedGen UID:
10502
Concept ID:
C0029464
Disease or Syndrome
An abnormal increase of bone mineral density, that is, of the amount of matter per cubic centimeter of bones which is often referred to as osteosclerosis. Osteosclerosis can be detected on radiological examination as an increased whiteness (density) of affected bones.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Abnormal mastoid morphology
MedGen UID:
871376
Concept ID:
C4025872
Anatomical Abnormality
An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.
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.
Widely spaced teeth
MedGen UID:
337093
Concept ID:
C1844813
Finding
Increased spaces (diastemata) between most of the teeth in the same dental arch.
Abnormal hair morphology
MedGen UID:
56381
Concept ID:
C0157733
Finding
An abnormality of the hair.
Fragile nails
MedGen UID:
341661
Concept ID:
C1856963
Finding
Nails that easily break.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTricho-dento-osseous syndrome
Follow this link to review classifications for Tricho-dento-osseous syndrome in Orphanet.

Professional guidelines

PubMed

Faria-Teixeira MC, Tordera C, Salvado E Silva F, Vaz-Carneiro A, Iglesias-Linares A
Pediatr Res 2024 May;95(6):1455-1475. Epub 2024 Feb 12 doi: 10.1038/s41390-023-02907-5. PMID: 38347173Free PMC Article
Wright JT, Kula K, Hall K, Simmons JH, Hart TC
Am J Med Genet 1997 Oct 17;72(2):197-204. doi: 10.1002/(sici)1096-8628(19971017)72:2<197::aid-ajmg14>3.3.co;2-0. PMID: 9382143

Recent clinical studies

Etiology

Faria-Teixeira MC, Tordera C, Salvado E Silva F, Vaz-Carneiro A, Iglesias-Linares A
Pediatr Res 2024 May;95(6):1455-1475. Epub 2024 Feb 12 doi: 10.1038/s41390-023-02907-5. PMID: 38347173Free PMC Article
Nguyen T, Phillips C, Frazier-Bower S, Wright T
Clin Genet 2013 Apr;83(4):375-9. Epub 2012 Jun 25 doi: 10.1111/j.1399-0004.2012.01907.x. PMID: 22671030
Price JA, Wright JT, Kula K, Bowden DW, Hart TC
J Med Genet 1998 Oct;35(10):825-8. doi: 10.1136/jmg.35.10.825. PMID: 9783705Free PMC Article
Hart TC, Bowden DW, Bolyard J, Kula K, Hall K, Wright JT
Hum Mol Genet 1997 Dec;6(13):2279-84. doi: 10.1093/hmg/6.13.2279. PMID: 9361034
Witkop CJ
Int Dent J 1976 Dec;26(4):378-90. PMID: 186412

Diagnosis

Perandones-González H, Rusiñol-Batlle L, Bosquez D, Brunet-Llobet L, Ivars M, Yubero D, Sarig O, Malki L, Peled A, Sprecher E, Baselga E
Pediatr Dermatol 2023 Nov-Dec;40(6):1094-1096. Epub 2023 Mar 27 doi: 10.1111/pde.15309. PMID: 36973173
Harbuz R, Bilan F, Couet D, Charraud V, Kitzis A, Gilbert-Dussardier B
Am J Med Genet A 2013 Oct;161A(10):2504-11. Epub 2013 Aug 15 doi: 10.1002/ajmg.a.36122. PMID: 23949819
Islam M, Lurie AG, Reichenberger E
Oral Surg Oral Med Oral Pathol Oral Radiol Endod 2005 Dec;100(6):736-42. Epub 2005 Oct 5 doi: 10.1016/j.tripleo.2005.04.017. PMID: 16301156
Wright JT, Roberts MW, Wilson AR, Kudhail R
Oral Surg Oral Med Oral Pathol 1994 May;77(5):487-93. doi: 10.1016/0030-4220(94)90228-3. PMID: 8028872
Crawford PJ, Aldred MJ
Clin Genet 1990 Jul;38(1):44-50. doi: 10.1111/j.1399-0004.1990.tb03546.x. PMID: 2387085

Therapy

Nguyen T, Phillips C, Frazier-Bower S, Wright T
Clin Genet 2013 Apr;83(4):375-9. Epub 2012 Jun 25 doi: 10.1111/j.1399-0004.2012.01907.x. PMID: 22671030
Melnick M, Shields ED, El-Kafrawy AH
Clin Genet 1977 Jul;12(1):17-27. doi: 10.1111/j.1399-0004.1977.tb00896.x. PMID: 891005

Prognosis

Liu H, Wang Y, Liu H, Yu M, Zheng J, Feng H, Liu Y, Han D
Arch Oral Biol 2022 Sep;141:105479. Epub 2022 Jun 10 doi: 10.1016/j.archoralbio.2022.105479. PMID: 35714441
Atar M, Körperich EJ
J Dent 2010 Apr;38(4):296-306. Epub 2010 Jan 13 doi: 10.1016/j.jdent.2009.12.001. PMID: 20004698
Mohlke KL, Purkayastha AA, Westrick RJ, Ginsburg D
Genomics 1998 Nov 15;54(1):19-30. doi: 10.1006/geno.1998.5553. PMID: 9806826
Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC
Hum Mol Genet 1998 Mar;7(3):563-9. doi: 10.1093/hmg/7.3.563. PMID: 9467018

Clinical prediction guides

Sethuraman P, Baliah J, Reddy JRC, Umar M
BMJ Case Rep 2023 Apr 28;16(4) doi: 10.1136/bcr-2023-254583. PMID: 37116957Free PMC Article
Liu H, Wang Y, Liu H, Yu M, Zheng J, Feng H, Liu Y, Han D
Arch Oral Biol 2022 Sep;141:105479. Epub 2022 Jun 10 doi: 10.1016/j.archoralbio.2022.105479. PMID: 35714441
Wright JT, Hong SP, Simmons D, Daly B, Uebelhart D, Luder HU
Am J Med Genet A 2008 Feb 1;146A(3):343-9. doi: 10.1002/ajmg.a.32132. PMID: 18203197
Price JA, Wright JT, Kula K, Bowden DW, Hart TC
J Med Genet 1998 Oct;35(10):825-8. doi: 10.1136/jmg.35.10.825. PMID: 9783705Free PMC Article
Price JA, Bowden DW, Wright JT, Pettenati MJ, Hart TC
Hum Mol Genet 1998 Mar;7(3):563-9. doi: 10.1093/hmg/7.3.563. PMID: 9467018

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