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Isolated congenital anonychia

MedGen UID:
977598
•Concept ID:
CN294204
•
Disease or Syndrome
Synonyms: autosomal recessive nonsyndromic congenital nail disorder-4; congenital anonychia; Isolated anonychia; isolated anonychia; isolated congenital anonychia; nonsyndromic congenital nail disorder, 4
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
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 recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0019211
Orphanet: ORPHA79143

Definition

Isolated congenital anonychia is characterized by nail abnormalities ranging from onychodystrophy (dystrophic nails) to anonychia (absence of nails). Onychodystrophy-anonychia has been described in at least four generations of a family with male-to-male transmission, suggesting autosomal dominant transmission. Anonychia has been described in approximately less than 20 cases; it is likely to be transmitted as an autosomal recessive trait. Total anonychia congenita, in which all the fingernails and toenails are absent, may have an autosomal dominant inheritance pattern. [from ORDO]

Recent clinical studies

Diagnosis

Iso-Kikuchi Syndrome: Report of 3 Pediatric Cases.
Tirelli LL, Luna PC, Cano R, Giraldo JP, Larralde M
Actas Dermosifiliogr (Engl Ed) 2018 Jun;109(5):e33-e36. Epub 2017 Nov 1 doi: 10.1016/j.ad.2017.06.014. PMID: 29102318
Fontaine-Farriaux syndrome: a recognizable craniosynostosis syndrome with nail, skeletal, abdominal, and central nervous system anomalies.
Castori M, Silvestri E, Pedace L, Marseglia G, Tempera A, Antigoni I, Torricelli F, Majore S, Grammatico P
Am J Med Genet A 2009 Oct;149A(10):2193-9. doi: 10.1002/ajmg.a.32763. PMID: 19731360

Clinical prediction guides

Congenital brachydactyly and nail hypoplasia: clue to bone-dependent nail formation.
Seitz CS, Hamm H
Br J Dermatol 2005 Jun;152(6):1339-42. doi: 10.1111/j.1365-2133.2005.06509.x. PMID: 15949005

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