Oculodental syndrome, Rutherfurd type

General Information (adopted from Orphanet):

Synonyms, Signs: GINGIVAL HYPERTROPHY WITH CORNEAL DYSTROPHY
CORNEAL DYSTROPHY WITH GUM HYPERTROPHY
Rutherfurd syndrome
Gingival hypertrophy - corneal dystrophy
Number of Symptoms 14
OrphanetNr: 2709
OMIM Id: 180900
ICD-10: Q87.8
UMLs: C0796140
MeSH: C537732
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000168) Abnormality of the gingiva Very frequent [Orphanet] 51 / 7739
2
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
3
 (HPO:0006352) Failure of eruption of permanent teeth 2 / 7739
4
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
5
 (HPO:0000680) Delayed eruption of primary teeth 10 / 7739
6
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
7
 (HPO:0007957) Corneal opacity 84 / 7739
8
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
9
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
10
 (HPO:0001131) Corneal dystrophy 56 / 7739
11
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
12
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
13
 (OMIM) Failure of secondary teeth eruption 1 / 7739
14
 (HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: