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Odonto-onycho dysplasia-alopecia syndrome

MedGen UID:
1648007
Concept ID:
C4706599
Disease or Syndrome
Synonyms: odonto onycho dysplasia with alopecia; Odonto onycho dysplasia with alopecia syndrome; Odonto-onycho dysplasia alopecia syndrome; odonto-onycho dysplasia-alopecia syndrome
SNOMED CT: Odonto onycho dysplasia with alopecia syndrome (763828007); Odonto-onycho dysplasia alopecia syndrome (763828007)
 
Monarch Initiative: MONDO:0017134
Orphanet: ORPHA2722

Definition

A rare genetic ectodermal dysplasia syndrome with characteristics of almost total alopecia with only sparse, thin, brittle, slow-growing scalp hair, fair and sparse eyebrows and eyelashes, absent axillary and pubic hair, fragile and brittle fingernails, thick and brittle toenails (both with a subungual corneal layer), hypodontia, microdontia, widely spaced teeth with hypoplastic enamel, mild palmoplantar keratosis, cafe au lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOdonto-onycho dysplasia-alopecia syndrome

Professional guidelines

PubMed

Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F
Clin Genet 2017 Nov;92(5):477-486. Epub 2017 Mar 19 doi: 10.1111/cge.12972. PMID: 28105635

Recent clinical studies

Etiology

Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F
Clin Genet 2017 Nov;92(5):477-486. Epub 2017 Mar 19 doi: 10.1111/cge.12972. PMID: 28105635
Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A
Am J Hum Genet 2009 Jul;85(1):97-105. Epub 2009 Jun 25 doi: 10.1016/j.ajhg.2009.06.001. PMID: 19559398Free PMC Article

Diagnosis

Hsu TC, Lee JY, Hsu MM, Chao SC
J Dermatol 2018 Apr;45(4):475-478. Epub 2017 Dec 22 doi: 10.1111/1346-8138.14201. PMID: 29271000
Krøigård AB, Clemmensen O, Gjørup H, Hertz JM, Bygum A
BMC Dermatol 2016 Mar 10;16:3. doi: 10.1186/s12895-016-0040-7. PMID: 26964878Free PMC Article
Vink CP, Ockeloen CW, ten Kate S, Koolen DA, Ploos van Amstel JK, Kuijpers-Jagtman AM, van Heumen CC, Kleefstra T, Carels CE
Eur J Hum Genet 2014 Sep;22(9):1063-70. Epub 2014 Jan 8 doi: 10.1038/ejhg.2013.300. PMID: 24398796Free PMC Article
Pinheiro M, Pereira LC, Freire-Maia N
Br J Dermatol 1981 Oct;105(4):371-82. doi: 10.1111/j.1365-2133.1981.tb00768.x. PMID: 7295550

Therapy

Mues G, Bonds J, Xiang L, Vieira AR, Seymen F, Klein O, D'Souza RN
Am J Med Genet A 2014 Oct;164A(10):2455-60. Epub 2014 Apr 3 doi: 10.1002/ajmg.a.36520. PMID: 24700731Free PMC Article

Prognosis

Kantaputra P, Kaewgahya M, Jotikasthira D, Kantaputra W
Am J Med Genet A 2014 Apr;164A(4):1041-8. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36388. PMID: 24458874
Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N
Eur J Hum Genet 2009 Dec;17(12):1600-5. Epub 2009 May 27 doi: 10.1038/ejhg.2009.81. PMID: 19471313Free PMC Article
Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A
Am J Hum Genet 2007 Oct;81(4):821-8. Epub 2007 Aug 9 doi: 10.1086/520064. PMID: 17847007Free PMC Article

Clinical prediction guides

Tardieu C, Jung S, Niederreither K, Prasad M, Hadj-Rabia S, Philip N, Mallet A, Consolino E, Sfeir E, Noueiri B, Chassaing N, Dollfus H, Manière MC, Bloch-Zupan A, Clauss F
Clin Genet 2017 Nov;92(5):477-486. Epub 2017 Mar 19 doi: 10.1111/cge.12972. PMID: 28105635
Kantaputra P, Kaewgahya M, Jotikasthira D, Kantaputra W
Am J Med Genet A 2014 Apr;164A(4):1041-8. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36388. PMID: 24458874
Vink CP, Ockeloen CW, ten Kate S, Koolen DA, Ploos van Amstel JK, Kuijpers-Jagtman AM, van Heumen CC, Kleefstra T, Carels CE
Eur J Hum Genet 2014 Sep;22(9):1063-70. Epub 2014 Jan 8 doi: 10.1038/ejhg.2013.300. PMID: 24398796Free PMC Article
Nawaz S, Klar J, Wajid M, Aslam M, Tariq M, Schuster J, Baig SM, Dahl N
Eur J Hum Genet 2009 Dec;17(12):1600-5. Epub 2009 May 27 doi: 10.1038/ejhg.2009.81. PMID: 19471313Free PMC Article
Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A
Am J Hum Genet 2007 Oct;81(4):821-8. Epub 2007 Aug 9 doi: 10.1086/520064. PMID: 17847007Free PMC Article

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