U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Trichodysplasia-amelogenesis imperfecta syndrome

MedGen UID:
798132
•Concept ID:
CN205796
•
Disease or Syndrome
Synonym: trichodysplasia-amelogenesis imperfecta syndrome
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019205
Orphanet: ORPHA79129

Definition

A rare ectodermal dysplasia syndrome characterized by the association of amelogenesis imperfecta and trichodysplasia with symmetrical pits in the cuticles of hair shafts. There have been no further descriptions in the literature since 1993. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrichodysplasia-amelogenesis imperfecta syndrome
Follow this link to review classifications for Trichodysplasia-amelogenesis imperfecta syndrome in Orphanet.

Professional guidelines

PubMed

Mesenchymal Stromal Cells for Enhancing Hematopoietic Engraftment and Treatment of Graft-Versus-Host Disease, Hemorrhages and Acute Respiratory Distress Syndrome.
Ringdén O, Moll G, Gustafsson B, Sadeghi B
Front Immunol 2022;13:839844. Epub 2022 Mar 18 doi: 10.3389/fimmu.2022.839844. PMID: 35371003Free PMC Article
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090

Recent clinical studies

Etiology

Syndromic Hydrocephalus.
Varagur K, Sanka SA, Strahle JM
Neurosurg Clin N Am 2022 Jan;33(1):67-79. doi: 10.1016/j.nec.2021.09.006. PMID: 34801143Free PMC Article
Chapter 6: Vitamins and Oral Health.
Gutierrez Gossweiler A, Martinez-Mier EA
Monogr Oral Sci 2020;28:59-67. Epub 2019 Nov 7 doi: 10.1159/000455372. PMID: 31940621
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. PMID: 24715559Free PMC Article
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Amelogenesis imperfecta.
Crawford PJ, Aldred M, Bloch-Zupan A
Orphanet J Rare Dis 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. PMID: 17408482Free PMC Article

Diagnosis

Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders.
Colombi M, Dordoni C, Chiarelli N, Ritelli M
Am J Med Genet C Semin Med Genet 2015 Mar;169C(1):6-22. doi: 10.1002/ajmg.c.31429. PMID: 25821090
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. PMID: 24715559Free PMC Article
Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia.
Barron MJ, McDonnell ST, Mackie I, Dixon MJ
Orphanet J Rare Dis 2008 Nov 20;3:31. doi: 10.1186/1750-1172-3-31. PMID: 19021896Free PMC Article
Amelogenesis imperfecta.
Crawford PJ, Aldred M, Bloch-Zupan A
Orphanet J Rare Dis 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. PMID: 17408482Free PMC Article

Therapy

Mesenchymal Stromal Cells for Enhancing Hematopoietic Engraftment and Treatment of Graft-Versus-Host Disease, Hemorrhages and Acute Respiratory Distress Syndrome.
Ringdén O, Moll G, Gustafsson B, Sadeghi B
Front Immunol 2022;13:839844. Epub 2022 Mar 18 doi: 10.3389/fimmu.2022.839844. PMID: 35371003Free PMC Article
Bisphosphonates in veterinary medicine: The new horizon for use.
Suva LJ, Cooper A, Watts AE, Ebetino FH, Price J, Gaddy D
Bone 2021 Jan;142:115711. Epub 2020 Oct 24 doi: 10.1016/j.bone.2020.115711. PMID: 33141069
Off-label uses of denosumab in metabolic bone diseases.
Polyzos SA, Makras P, Tournis S, Anastasilakis AD
Bone 2019 Dec;129:115048. Epub 2019 Aug 24 doi: 10.1016/j.bone.2019.115048. PMID: 31454537
Exploiting the WNT Signaling Pathway for Clinical Purposes.
Johnson ML, Recker RR
Curr Osteoporos Rep 2017 Jun;15(3):153-161. doi: 10.1007/s11914-017-0357-0. PMID: 28432596
Brittle bone disease.
Crawford D, Dearmun A
Nurs Child Young People 2016 Sep 12;28(7):17. doi: 10.7748/ncyp.28.7.17.s18. PMID: 27615580

Prognosis

Clinical implications of a diagnosis of taurodontism: A literature review.
Pach J, Regulski PA, Tomczyk J, Strużycka I
Adv Clin Exp Med 2022 Dec;31(12):1385-1389. doi: 10.17219/acem/152120. PMID: 36000881
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.
Van Dijk FS, Sillence DO
Am J Med Genet A 2014 Jun;164A(6):1470-81. Epub 2014 Apr 8 doi: 10.1002/ajmg.a.36545. PMID: 24715559Free PMC Article
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome.
Schossig A, Wolf NI, Kapferer I, Kohlschütter A, Zschocke J
Eur J Med Genet 2012 May;55(5):319-22. Epub 2012 Mar 28 doi: 10.1016/j.ejmg.2012.02.008. PMID: 22522085
Hypermobility--not a circus act.
Grahame R
Int J Clin Pract 2000 Jun;54(5):314-5. PMID: 10954958

Clinical prediction guides

Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM
Acta Derm Venereol 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. PMID: 32147746Free PMC Article
The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.
Weiss K, Lazar HP, Kurolap A, Martinez AF, Paperna T, Cohen L, Smeland MF, Whalen S, Heide S, Keren B, Terhal P, Irving M, Takaku M, Roberts JD, Petrovich RM, Schrier Vergano SA, Kenney A, Hove H, DeChene E, Quinonez SC, Colin E, Ziegler A, Rumple M, Jain M, Monteil D, Roeder ER, Nugent K, van Haeringen A, Gambello M, Santani A, Medne L, Krock B, Skraban CM, Zackai EH, Dubbs HA, Smol T, Ghoumid J, Parker MJ, Wright M, Turnpenny P, Clayton-Smith J, Metcalfe K, Kurumizaka H, Gelb BD, Baris Feldman H, Campeau PM, Muenke M, Wade PA, Lachlan K
Genet Med 2020 Feb;22(2):389-397. Epub 2019 Aug 7 doi: 10.1038/s41436-019-0612-0. PMID: 31388190Free PMC Article
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA.
Zhang J, Li J, Saucier JB, Feng Y, Jiang Y, Sinson J, McCombs AK, Schmitt ES, Peacock S, Chen S, Dai H, Ge X, Wang G, Shaw CA, Mei H, Breman A, Xia F, Yang Y, Purgason A, Pourpak A, Chen Z, Wang X, Wang Y, Kulkarni S, Choy KW, Wapner RJ, Van den Veyver IB, Beaudet A, Parmar S, Wong LJ, Eng CM
Nat Med 2019 Mar;25(3):439-447. Epub 2019 Jan 28 doi: 10.1038/s41591-018-0334-x. PMID: 30692697
Enamel-Renal-Syndrome: case report.
Torres LHS, de-Azevedo-Vaz SL, Barroso DRC, Silva DN, Velloso TRG, de Barros LAP
Spec Care Dentist 2018 May;38(3):172-175. Epub 2018 Apr 19 doi: 10.1111/scd.12288. PMID: 29672880
Amelogenesis imperfecta.
Crawford PJ, Aldred M, Bloch-Zupan A
Orphanet J Rare Dis 2007 Apr 4;2:17. doi: 10.1186/1750-1172-2-17. PMID: 17408482Free PMC Article

Recent systematic reviews

Genotype-phenotype analysis of selective failure of tooth eruption-A systematic review.
Guo X, Duan X
Clin Genet 2023 Sep;104(3):287-297. Epub 2023 Jul 13 doi: 10.1111/cge.14400. PMID: 37448157
Mesenchymal Stromal Cells for Enhancing Hematopoietic Engraftment and Treatment of Graft-Versus-Host Disease, Hemorrhages and Acute Respiratory Distress Syndrome.
Ringdén O, Moll G, Gustafsson B, Sadeghi B
Front Immunol 2022;13:839844. Epub 2022 Mar 18 doi: 10.3389/fimmu.2022.839844. PMID: 35371003Free PMC Article
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review.
Kapferer-Seebacher I, Schnabl D, Zschocke J, Pope FM
Acta Derm Venereol 2020 Mar 25;100(7):adv00092. doi: 10.2340/00015555-3428. PMID: 32147746Free PMC Article
Features, genetics and their correlation in Jalili syndrome: a systematic review.
Daneshmandpour Y, Darvish H, Pashazadeh F, Emamalizadeh B
J Med Genet 2019 Jun;56(6):358-369. Epub 2019 Jan 31 doi: 10.1136/jmedgenet-2018-105716. PMID: 30705057
Molecular, phenotypic aspects and therapeutic horizons of rare genetic bone disorders.
Faruqi T, Dhawan N, Bahl J, Gupta V, Vohra S, Tu K, Abdelmagid SM
Biomed Res Int 2014;2014:670842. Epub 2014 Oct 22 doi: 10.1155/2014/670842. PMID: 25530967Free 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.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. 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...