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Nonsyndromic congenital nail disorder 1(NDNC1; NDNC10, FORMERLY)

MedGen UID:
96056
•Concept ID:
C0406443
•
Congenital Abnormality
Synonyms: CLAW-SHAPED NAILS; NAIL DISORDER, NONSYNDROMIC CONGENITAL, 10; ONYCHAUXIS, HYPONYCHIA, AND ONYCHOLYSIS; Onychodystrophy totalis, isolated; Twenty nail dystrophy
SNOMED CT: Trachonychia (238719003); Twenty nail dystrophy (238719003)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): FZD6 (8q22.3)
 
Monarch Initiative: MONDO:0008060
OMIM®: 161050
Orphanet: ORPHA79153

Definition

Many types of nonsyndromic congenital nail disorders (NDNC) have been described. Twenty-nail dystrophy (TND), also known as trachyonychia (from the Greek for 'rough nails'), is an autosomal dominant nail dystrophy characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough sandpaper-like appearance. Occasionally some nails are spared. The slowly progressive condition is usually apparent at birth and may be self-limiting, with spontaneous resolution in some patients (summary by Sehgal, 2007). TND is referred to here as nonsyndromic congenital nail disorder-1 (NDNC1). Genetic Heterogeneity of Nonsyndromic Congenital Nail Disorders Other nonsyndromic congenital nail disorders include koilonychia (NDNC2; 149300); leukonychia (NDNC3; 151600) caused by mutation in the PLCD1 gene (602142) on chromosome 3p22; anonychia/hyponychia (NDNC4; 206800) caused by mutation in the RSPO4 gene (610673) on chromosome 20p13; partial onycholysis with scleronychia (NDNC5; 164800); anonychia of thumbs with onychodystrophy of other nails (NDNC6; 107000); onychodystrophy mapping to chromosome 17p13 (NDNC7; 605779); toenail dystrophy (NDNC8; 607523) caused by mutation in the COL7A1 gene (120120) on chromosome 3p21; onychodystrophy mapping to chromosome 17q25.1-q25.3 (NDNC9; 614149). [from OMIM]

Additional description

From MedlinePlus Genetics
Nonsyndromic congenital nail disorder 10 is a condition that affects the fingernails and toenails. Affected individuals have extremely thick nails (onychauxis) that separate from the underlying nail bed (onycholysis) and can appear claw-like. Some fingers and toes may be missing part of the nail (hyponychia).

In affected individuals, the nails are often abnormal from birth. However, the abnormalities may not be noticeable until later in childhood because the nails tend to grow more slowly than normal.

Individuals with nonsyndromic congenital nail disorder 10 do not have any other health problems related to the condition.  https://medlineplus.gov/genetics/condition/nonsyndromic-congenital-nail-disorder-10

Clinical features

From HPO
Onycholysis
MedGen UID:
39324
•Concept ID:
C0085661
•
Disease or Syndrome
Detachment of the nail from the nail bed.
See: Feature record | Search on this feature
Onychauxis
MedGen UID:
78098
•Concept ID:
C0263536
•
Disease or Syndrome
Thickened nails without deformity.
See: Feature record | Search on this feature
Onychogryposis
MedGen UID:
82671
•Concept ID:
C0263537
•
Disease or Syndrome
Nail that appears thick when viewed on end.
See: Feature record | Search on this feature
Trachyonychia
MedGen UID:
107484
•Concept ID:
C0546956
•
Disease or Syndrome
Excessive longitudinal ridging that gives the surface of the nail plate a rough appearance. It results from multiple foci of defective keratinization of the proximal nail matrix.
See: Feature record | Search on this feature
Nail dysplasia
MedGen UID:
331737
•Concept ID:
C1834405
•
Congenital Abnormality
The presence of developmental dysplasia of the nail.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNonsyndromic congenital nail disorder 1
Follow this link to review classifications for Nonsyndromic congenital nail disorder 1 in Orphanet.

Recent clinical studies

Etiology

Nail involvement in autosomal recessive congenital ichthyosis.
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H
Clin Dermatol 2022 Jul-Aug;40(4):388-394. Epub 2022 Feb 15 doi: 10.1016/j.clindermatol.2022.02.012. PMID: 35181410

Diagnosis

Nail involvement in autosomal recessive congenital ichthyosis.
Zaouak A, Chamli A, Ben Mansour N, Jouini W, Fenniche S, Hammami H
Clin Dermatol 2022 Jul-Aug;40(4):388-394. Epub 2022 Feb 15 doi: 10.1016/j.clindermatol.2022.02.012. PMID: 35181410
A novel pathogenic variant in the FZD6 gene causes recessive nail dysplasia in a large Iranian kindred.
Mohammadi-Asl J, Pourreza MR, Mohammadi A, Eskandari A, Mozafar-Jalali S, Tabatabaiefar MA
J Dermatol Sci 2017 Oct;88(1):134-138. Epub 2017 May 13 doi: 10.1016/j.jdermsci.2017.04.017. PMID: 28545862

Prognosis

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M
Eur J Hum Genet 2008 Mar;16(3):300-4. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201982. PMID: 18197197

Clinical prediction guides

Primary non-syndromic lymphoedema (Meige disease) is not caused by mutations in FOXC2.
Rezaie T, Ghoroghchian R, Bell R, Brice G, Hasan A, Burnand K, Vernon S, Mansour S, Mortimer P, Jeffery S, Child A, Sarfarazi M
Eur J Hum Genet 2008 Mar;16(3):300-4. Epub 2008 Jan 16 doi: 10.1038/sj.ejhg.5201982. PMID: 18197197

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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