Oculodental syndrome, Rutherfurd type

MedGen UID:: 163222
•Concept ID:: C0796140
•: 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: 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)

Monarch Initiative:	MONDO:0008396
OMIM®:	180900
Orphanet:	ORPHA2709

Definition

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:: 341477
•Concept ID:: C1849538
•: Finding

Delayed tooth eruption affecting the primary dentition.

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Failure of eruption of permanent teeth

MedGen UID:: 870606
•Concept ID:: C4025056
•: Anatomical Abnormality

Lack of tooth eruption of the secondary dentition.

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Corneal dystrophy

MedGen UID:: 3619
•Concept ID:: C0010036
•: 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.

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Opacification of the corneal stroma