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Trichodysplasia-amelogenesis imperfecta syndrome

MedGen UID:
930013
•Concept ID:
C4304344
•
Disease or Syndrome
Synonyms: Trichodysplasia with amelogenesis imperfecta syndrome; trichodysplasia-amelogenesis imperfecta syndrome
SNOMED CT: Trichodysplasia with amelogenesis imperfecta syndrome (719911000)
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

The association of amelogenesis imperfecta and a microscopically typical hair dysplasia has been found in several members of a family in two generations. Transmission is X-linked. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTrichodysplasia-amelogenesis imperfecta syndrome

Professional guidelines

PubMed

Diagnosis and management of pediatric metabolic bone diseases associated with skeletal fragility.
Charoenngam N, Cevik MB, Holick MF
Curr Opin Pediatr 2020 Aug;32(4):560-573. doi: 10.1097/MOP.0000000000000914. PMID: 32692054
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

Expanding the phenome and variome of skeletal dysplasia.
Maddirevula S, Alsahli S, Alhabeeb L, Patel N, Alzahrani F, Shamseldin HE, Anazi S, Ewida N, Alsaif HS, Mohamed JY, Alazami AM, Ibrahim N, Abdulwahab F, Hashem M, Abouelhoda M, Monies D, Al Tassan N, Alshammari M, Alsagheir A, Seidahmed MZ, Sogati S, Aglan MS, Hamad MH, Salih MA, Hamed AA, Alhashmi N, Nabil A, Alfadli F, Abdel-Salam GMH, Alkuraya H, Peitee WO, Keng WT, Qasem A, Mushiba AM, Zaki MS, Fassad MR, Alfadhel M, Alexander S, Sabr Y, Temtamy S, Ekbote AV, Ismail S, Hosny GA, Otaify GA, Amr K, Al Tala S, Khan AO, Rizk T, Alaqeel A, Alsiddiky A, Singh A, Kapoor S, Alhashem A, Faqeih E, Shaheen R, Alkuraya FS
Genet Med 2018 Dec;20(12):1609-1616. Epub 2018 Apr 5 doi: 10.1038/gim.2018.50. PMID: 29620724
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

Does Whole-Body Vibration Treatment Make Children's Bones Stronger?
Swolin-Eide D, Magnusson P
Curr Osteoporos Rep 2020 Oct;18(5):471-479. doi: 10.1007/s11914-020-00608-0. PMID: 32696294Free PMC Article
Denosumab: an Emerging Therapy in Pediatric Bone Disorders.
Boyce AM
Curr Osteoporos Rep 2017 Aug;15(4):283-292. doi: 10.1007/s11914-017-0380-1. PMID: 28643220Free PMC Article
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
Application of anti-Sclerostin therapy in non-osteoporosis disease models.
Jacobsen CM
Bone 2017 Mar;96:18-23. Epub 2016 Oct 22 doi: 10.1016/j.bone.2016.10.018. PMID: 27780792Free PMC Article
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
Advances in osteogenesis imperfecta.
Cole WG
Clin Orthop Relat Res 2002 Aug;(401):6-16. doi: 10.1097/00003086-200208000-00003. PMID: 12151877

Clinical prediction guides

COL1A1 and COL1A2 variants in Ehlers-Danlos syndrome phenotypes and COL1-related overlap disorder.
Venable E, Knight DRT, Thoreson EK, Baudhuin LM
Am J Med Genet C Semin Med Genet 2023 Jun;193(2):147-159. Epub 2023 Mar 9 doi: 10.1002/ajmg.c.32038. PMID: 36896471
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
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
A systematic review of genetic skeletal disorders reported in Chinese biomedical journals between 1978 and 2012.
Cui Y, Zhao H, Liu Z, Liu C, Luan J, Zhou X, Han J
Orphanet J Rare Dis 2012 Aug 22;7:55. doi: 10.1186/1750-1172-7-55. PMID: 22913777Free PMC Article

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