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Odonto-onycho dysplasia-alopecia syndrome

MedGen UID:
797880
Concept ID:
CN202534
Disease or Syndrome
Synonyms: odonto onycho dysplasia with alopecia; odonto-onycho dysplasia-alopecia syndrome
 
Monarch Initiative: MONDO:0017134
Orphanet: ORPHA2722

Definition

Odonto-onycho dysplasia-alopecia syndrome is a rare, genetic ectodermal dysplasia syndrome characterized by 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, café-au-lait spots and areolae anomalies. There have been no further descriptions in the literature since 1985. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOdonto-onycho dysplasia-alopecia syndrome
Follow this link to review classifications for Odonto-onycho dysplasia-alopecia syndrome in Orphanet.

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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