Genetically caused non-syndromal nail abnormalities

Author: Prof. Dr. med. Peter Altmeyer

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Last updated on: 29.10.2020

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Genetically caused solicited nail anomalies; Nail disorder nonsyndromic congenital; Nail disorder, nonsyndromic congenital; NDNC

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The term "Nail disorder, nonsyndromic congenital" (NDNC) is used to describe a heterogeneous group of hereditary, dominant or recessive inherited, non-syndromic (isolated) nail anomalies, including the complete absence of the nail plate (Autosomal recessive congenital anonychia - OMIM 206800). Besides anonychia, hereditary forms of trachyonychia, koilonychia, leukonychia, watch glass nails, tubular nails, onychogrypose and pterygium inversusm unguis are described. The nail anomalies may affect 1 or more nails and may be associated with skeletal dysplasia. The group of NDCNs includes 10 clinical pictures NDCN1-NCDN10) (Khan S et al. 2015).

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  1. Nail disorder, nonsyndromic congenital 1, NDNC1(Twenty-nail-dystrophy; Onychodystrophy totalis, isolated)
  2. Nail disorder, nonsyndromic congenital 2; NDNC2(Hereditary Koilonychia; Koilonychia hereditaria)
  3. Nail disorder, nonsyndromic congenital 3; NDNC3(Leukonychia totalis/partialis)
  4. Nail disorder, nonsyndromic congenital, 4; NDNC4;(Anonychia/Hyponychia congenita, Anonychia totalis)
  5. Nail disorder, nonsyndromic congenital 5, NDNC5(Onycholysis partialis with scleronychia)
  6. Nail disorder, nonsyndromic congenital 6, NDNC6(Anonychia/Hyponychia and Onychodystrophy)
  7. Nail disorder, nonsyndromic congenital 7, NDNC7(Congenital isolated onychodysplasia)
  8. Nail disorder, nonsyndromic congenital 8; NDNC8(isolated toenail dystrophy)
  9. Nail disorder, nonsyndromic congenital 9; NDNC9(Isolated Anonychynycholysis)
  10. Nail disorder, nonsyndromic congenital 10; NDNC10 (Claw-shaped nails; onychauxis)

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  1. Bergmann C et al (2006) Mutations in the gene encoding the Wnt-signaling component R-spondin 4 (RSPO4) cause autosomal recessive anonychia. On J Hum gene 79:1105-1109.
  2. Khan S et al (2015) Genetics of human isolated hereditary nail disorders. Br J Dermatol 173:922-929.


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Last updated on: 29.10.2020