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Oligodontia-cancer predisposition syndrome(ODCRCS)

MedGen UID:
324868
•Concept ID:
C1837750
•
Neoplastic Process
Synonyms: Oligodontia-colorectal cancer syndrome; TOOTH AGENESIS-COLORECTAL CANCER SYNDROME
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): AXIN2 (17q24.1)
 
Monarch Initiative: MONDO:0012075
OMIM®: 608615
Orphanet: ORPHA300576

Definition

Oligodontia-cancer predisposition syndrome is a rare, genetic, odontologic disease characterized by congenital absence of six or more permanent teeth (excluding the third molars) in association with an increased risk for malignancies, ranging from gastrointestinal polyposis to early-onset colorectal cancer and/or breast cancer. Ectodermal dysplasia (manifesting with sparse hair and/or eyebrows) may also be associated. [from ORDO]

Clinical features

From HPO
Colon cancer
MedGen UID:
2839
•Concept ID:
C0007102
•
Neoplastic Process
A primary or metastatic malignant neoplasm that affects the colon. Representative examples include carcinoma, lymphoma, and sarcoma.
See: Feature record | Search on this feature
Polyposis of gastric fundus without polyposis coli
MedGen UID:
357403
•Concept ID:
C1868001
•
Neoplastic Process
Multiple polyps in the acid-secreting mucosa of the gastric body and fundus. Fundic gland polyps (FGP) are usually 1 to 5 mm in size, though larger polyps have been found. FGPs are typically sessile, shiny, translucent, pale to pinkish in color (resembling the surrounding mucosa), and often exhibit tiny surface blood vessels. These polyps have characteristically been observed to chunk off or detach entirely at the base when removed with cold forceps, in contrast to other types of gastric polyps.
See: Feature record | Search on this feature
Adenomatous colonic polyposis
MedGen UID:
358118
•Concept ID:
C1868071
•
Finding
Presence of multiple adenomatous polyps in the colon.
See: Feature record | Search on this feature
Absent eyebrow
MedGen UID:
98133
•Concept ID:
C0431448
•
Congenital Abnormality
Absence of the eyebrow.
See: Feature record | Search on this feature
Sparse scalp hair
MedGen UID:
346499
•Concept ID:
C1857042
•
Finding
Decreased number of hairs per unit area of skin of the scalp.
See: Feature record | Search on this feature
Oligodontia
MedGen UID:
904670
•Concept ID:
C4082304
•
Congenital Abnormality
The absence of six or more teeth from the normal series by a failure to develop.
See: Feature record | Search on this feature
Sparse axillary hair
MedGen UID:
348975
•Concept ID:
C1858574
•
Finding
Reduced number or density of axillary hair.
See: Feature record | Search on this feature
Sparse body hair
MedGen UID:
350775
•Concept ID:
C1862863
•
Finding
Sparseness of the body hair.
See: Feature record | Search on this feature
Short eyelashes
MedGen UID:
411272
•Concept ID:
C2748682
•
Finding
Decreased length of the eyelashes (subjective).
See: Feature record | Search on this feature
Breast carcinoma
MedGen UID:
146260
•Concept ID:
C0678222
•
Neoplastic Process
The presence of a carcinoma of the breast.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOligodontia-cancer predisposition syndrome
Follow this link to review classifications for Oligodontia-cancer predisposition syndrome in Orphanet.

Recent clinical studies

Etiology

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Roht L, Hyldebrandt HK, Stormorken AT, Nordgarden H, Sijmons RH, Bos DK, Riegert-Johnson D, Mantia-Macklin S, Ilves P, Muru K, Wojcik MH, Kahre T, Õunap K
Mol Genet Genomic Med 2023 Jun;11(6):e2157. Epub 2023 Mar 1 doi: 10.1002/mgg3.2157. PMID: 36860143Free PMC Article

Diagnosis

AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Roht L, Hyldebrandt HK, Stormorken AT, Nordgarden H, Sijmons RH, Bos DK, Riegert-Johnson D, Mantia-Macklin S, Ilves P, Muru K, Wojcik MH, Kahre T, Õunap K
Mol Genet Genomic Med 2023 Jun;11(6):e2157. Epub 2023 Mar 1 doi: 10.1002/mgg3.2157. PMID: 36860143Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • GTR(Research)
      Research 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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