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Tricho-dento-osseous syndrome(TDO)

MedGen UID:
78555
Concept ID:
C0265333
Congenital Abnormality; Disease or Syndrome
Synonyms: Enamel hypoplasia and hypocalcification with associated strikingly curly hair; TDO; TDO syndrome
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
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)
 
Gene (location): DLX3 (17q21.33)
OMIM®: 190320

Definition

Trichodentoosseous syndrome 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

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.
Abnormality of the mastoid
MedGen UID:
427803
Concept ID:
CN000251
Finding
An abnormality of the mastoid process, which is the conical prominence projecting from the undersurface of the mastoid portion of the temporal bone.

Recent clinical studies

Etiology

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. 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. PMID: 9361034
Kula K, Hall K, Hart T, Wright JT
Clin Genet 1996 Dec;50(6):446-54. PMID: 9147871
Witkop CJ
Int Dent J 1976 Dec;26(4):378-90. PMID: 186412

Diagnosis

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
Mayer DE, Baal C, Litschauer-Poursadrollah M, Hemmer W, Jarisch R
J Dtsch Dermatol Ges 2010 Feb;8(2):102-4. doi: 10.1111/j.1610-0387.2009.07125_supp.x. PMID: 20151948
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. PMID: 8028872
Crawford PJ, Aldred MJ
Clin Genet 1990 Jul;38(1):44-50. 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. PMID: 891005

Prognosis

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. PMID: 9467018

Clinical prediction guides

Li Y, Han D, Zhang H, Liu H, Wong S, Zhao N, Qiu L, Feng H
Eur J Oral Sci 2015 Aug;123(4):228-34. Epub 2015 Jun 24 doi: 10.1111/eos.12197. PMID: 26104267
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
Dong J, Amor D, Aldred MJ, Gu T, Escamilla M, MacDougall M
Am J Med Genet A 2005 Mar 1;133A(2):138-41. doi: 10.1002/ajmg.a.30521. PMID: 15666299
Price JA, Wright JT, Kula K, Bowden DW, Hart TC
J Med Genet 1998 Oct;35(10):825-8. PMID: 9783705Free PMC Article
Shapiro SD, Quattromani FL, Jorgenson RJ, Young RS
Am J Med Genet 1983 Oct;16(2):225-36. doi: 10.1002/ajmg.1320160212. PMID: 6650567

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