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Congenital onychodystrophy

MedGen UID:
853249
Concept ID:
C1393669
Congenital Abnormality
Synonym: Congenital malformed nails
 
HPO: HP:0008394

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital onychodystrophy

Conditions with this feature

Pure hair and nail ectodermal dysplasia
MedGen UID:
400883
Concept ID:
C1865951
Disease or Syndrome
Pure hair and nail ectodermal dysplasia is characterised by the association of onychodystrophy and severe hypotrichosis, which is mainly limited to the scalp but may also affect the eyelashes and eyebrows. Less than 20 cases have been reported so far. The mode of transmission is autosomal dominant.

Professional guidelines

PubMed

Campeau PM, Hennekam RC; DOORS syndrome collaborative group
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):327-32. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31412. PMID: 25169651

Recent clinical studies

Etiology

Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384
Campeau PM, Hennekam RC; DOORS syndrome collaborative group
Am J Med Genet C Semin Med Genet 2014 Sep;166C(3):327-32. Epub 2014 Aug 28 doi: 10.1002/ajmg.c.31412. PMID: 25169651
Poerink JG, Kon M, van Minnen LP
J Plast Reconstr Aesthet Surg 2011 Jun;64(6):822-6. Epub 2010 Oct 6 doi: 10.1016/j.bjps.2010.08.043. PMID: 20926359
Gobello T, Mazzanti C, Zambruno G, Chinni LM, Happle R
Dermatology 2000;201(1):51-3. doi: 10.1159/000018431. PMID: 10971062

Diagnosis

Gao X, Dai P, Yuan YY
Hum Genet 2022 Apr;141(3-4):821-838. Epub 2021 Jul 7 doi: 10.1007/s00439-021-02310-2. PMID: 34232384
Campeau PM, Kasperaviciute D, Lu JT, Burrage LC, Kim C, Hori M, Powell BR, Stewart F, Félix TM, van den Ende J, Wisniewska M, Kayserili H, Rump P, Nampoothiri S, Aftimos S, Mey A, Nair LD, Begleiter ML, De Bie I, Meenakshi G, Murray ML, Repetto GM, Golabi M, Blair E, Male A, Giuliano F, Kariminejad A, Newman WG, Bhaskar SS, Dickerson JE, Kerr B, Banka S, Giltay JC, Wieczorek D, Tostevin A, Wiszniewska J, Cheung SW, Hennekam RC, Gibbs RA, Lee BH, Sisodiya SM
Lancet Neurol 2014 Jan;13(1):44-58. Epub 2013 Nov 29 doi: 10.1016/S1474-4422(13)70265-5. PMID: 24291220Free PMC Article
Brennan CB, Buehler T, Lesher JL Jr
Pediatr Dermatol 2013 Jul-Aug;30(4):e52-3. Epub 2012 Feb 13 doi: 10.1111/j.1525-1470.2011.01668.x. PMID: 22329539
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195
Qazi Q, Kassner EG
J Med Genet 1988 Aug;25(8):505-20. doi: 10.1136/jmg.25.8.505. PMID: 3050097Free PMC Article

Therapy

Armina S, Heiko T, Rudolf H, Judith F, Dimitra K, Peter S
J Dtsch Dermatol Ges 2020 Sep;18(9):1054-1057. Epub 2020 Jun 8 doi: 10.1111/ddg.14141. PMID: 32515052
Joy Way Bueno SM, Santos Muñoz A, Maldonado I, Larralde M
Pediatr Dermatol 2020 Jan;37(1):159-161. Epub 2019 Oct 20 doi: 10.1111/pde.14021. PMID: 31630427
Ali ME, Sikdar AU, Akhtar N, Islam ZM
Mymensingh Med J 2007 Jan;16(1):100-3. doi: 10.3329/mmj.v16i1.262. PMID: 17344790

Prognosis

Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A
Am J Med Genet A 2016 Dec;170(12):3207-3214. Epub 2016 Aug 19 doi: 10.1002/ajmg.a.37933. PMID: 27541164
Alessandri JL, Cuillier F, Malan V, Brayer C, Grondard M, Jacquemot-Dekkak L, Kieffer-Traversier M, Pierre F, Laurain C, Samperiz S, Tiran-Rajaofera I, Ramful D
Am J Med Genet A 2014 Mar;164A(3):648-54. Epub 2013 Dec 19 doi: 10.1002/ajmg.a.36323. PMID: 24357154
Poerink JG, Kon M, van Minnen LP
J Plast Reconstr Aesthet Surg 2011 Jun;64(6):822-6. Epub 2010 Oct 6 doi: 10.1016/j.bjps.2010.08.043. PMID: 20926359

Clinical prediction guides

Arif T, Amin SS, Adil M, Mohtashim M
Acta Dermatovenerol Croat 2017 Jul;25(2):161-163. PMID: 28871934
Lozano R, Herman K, Rothfuss M, Rieger H, Bayrak-Toydemir P, Aprile D, Fruscione F, Zara F, Fassio A
Am J Med Genet A 2016 Dec;170(12):3207-3214. Epub 2016 Aug 19 doi: 10.1002/ajmg.a.37933. PMID: 27541164
Rasool M, Nawaz S, Azhar A, Wajid M, Westermark P, Baig SM, Klar J, Dahl N
Eur J Dermatol 2010 Jul-Aug;20(4):443-6. Epub 2010 Apr 21 doi: 10.1684/ejd.2010.0962. PMID: 20409997
Gobello T, Mazzanti C, Zambruno G, Chinni LM, Happle R
Dermatology 2000;201(1):51-3. doi: 10.1159/000018431. PMID: 10971062
Perry HO, Su WP
Semin Dermatol 1995 Jun;14(2):145-51. doi: 10.1016/s1085-5629(05)80011-2. PMID: 7640195

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