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Oculodental syndrome, Rutherfurd type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: Corneal dystrophy with gum hypertrophy; Gingival hypertrophy corneal dystrophy; GINGIVAL HYPERTROPHY WITH CORNEAL DYSTROPHY; Rutherfurd syndrome
SNOMED CT: Rutherfurd syndrome (699754008); Oculodental syndrome (699754008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
Concept ID:
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:0008396
OMIM®: 180900
Orphanet: ORPHA2709


Oculodental syndrome, Rutherfurd type is a rare genetic disorder that is primarily characterized by the classical triad of gingival fibromatosis, non-eruption of tooth and corneal dystrophy (bilateral corneal vascularization and opacity). Abnormally shaped teeth have also been reported. The syndrome is transmitted as an autosomal dominant trait. [from ORDO]

Clinical features

From HPO
Delayed eruption of primary teeth
MedGen UID:
Concept ID:
Delayed tooth eruption affecting the primary dentition.
Failure of eruption of permanent teeth
MedGen UID:
Concept ID:
Anatomical Abnormality
Lack of tooth eruption of the secondary dentition.
Corneal dystrophy
MedGen UID:
Concept ID:
Disease or Syndrome
The term corneal dystrophy embraces a heterogenous group of bilateral genetically determined non-inflammatory corneal diseases that are restricted to the cornea.
Opacification of the corneal stroma
MedGen UID:
Concept ID:
Reduced transparency of the stroma of cornea.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOculodental syndrome, Rutherfurd type
Follow this link to review classifications for Oculodental syndrome, Rutherfurd type in Orphanet.

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