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Anonychia-onychodystrophy syndrome

MedGen UID:
350767
Concept ID:
C1862840
Disease or Syndrome
Synonyms: Absent nails and dystrophic nails; ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY
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.
 
Monarch Initiative: MONDO:0019577
Orphanet: ORPHA90390

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Anonychia-onychodystrophy syndrome in Orphanet.

Recent clinical studies

Etiology

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

Diagnosis

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

Prognosis

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

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