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Odontomicronychial dysplasia

MedGen UID:
371336
•Concept ID:
C1832473
•
Disease or Syndrome
Synonym: ECTODERMAL DYSPLASIA, NAIL/TOOTH TYPE
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 recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0011034
OMIM®: 601319
Orphanet: ORPHA1811

Definition

Odontomicronychial dysplasia is a rare, hereditary ectodermal dysplasia syndrome characterized by involvement of teeth and nails - precocious eruption and shedding of deciduous dentition, precocious eruption of secondary dentition with short, rhomboid roots, and short, thin, slow growing nails. [from ORDO]

Clinical features

From HPO
Premature eruption of permanent teeth
MedGen UID:
867242
•Concept ID:
C4021601
•
Finding
Premature tooth eruption of the permanent dentition.
See: Feature record | Search on this feature
Short nail
MedGen UID:
140850
•Concept ID:
C0423808
•
Finding
Decreased length of nail.
See: Feature record | Search on this feature
Thin nail
MedGen UID:
98073
•Concept ID:
C0423823
•
Finding
Nail that appears thin when viewed on end.
See: Feature record | Search on this feature
Slow-growing nails
MedGen UID:
331935
•Concept ID:
C1835238
•
Finding
Nails whose growth is slower than normal.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOdontomicronychial dysplasia
Follow this link to review classifications for Odontomicronychial dysplasia in Orphanet.

Recent clinical studies

Etiology

Odontomicronychial ectodermal dysplasia.
Pinheiro M, Snel AL, Freire-Maia N
J Med Genet 1996 Mar;33(3):230-2. doi: 10.1136/jmg.33.3.230. PMID: 8728698Free PMC Article

Supplemental Content

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    Clinical resources

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    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • 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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