Otodental syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: OCULOOTODENTAL SYNDROME, INCLUDED
OTODENTAL SYNDROME OTODENTAL SYNDROME WITH COLOBOMA, INCLUDED
Otodental dysplasia
Globodontia
CHROMOSOME 11q13 DELETION SYNDROME
Number of Symptoms 37
OrphanetNr: 2791
OMIM Id: 166750
ICD-10: K00.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
[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
Partial deletion of the long arm of chromosome 11
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
2
 (HPO:0000277) Abnormality of the mandible Occasional [Orphanet] 394 / 7739
3
 (HPO:0000684) Delayed eruption of teeth Frequent [Orphanet] 117 / 7739
4
 (HPO:0011069) Increased number of teeth Occasional [Orphanet] 39 / 7739
5
 (HPO:0000679) Taurodontia Frequent [Orphanet] 27 / 7739
6
 (HPO:0000689) Dental malocclusion Frequent [Orphanet] 114 / 7739
7
 (HPO:0009804) Reduced number of teeth Frequent [Orphanet] 137 / 7739
8
 (HPO:0000276) Long face Frequent [Orphanet] 109 / 7739
9
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
10
 (HPO:0000343) Long philtrum Occasional [Orphanet] 262 / 7739
11
 (HPO:0000682) Abnormality of dental enamel Frequent [Orphanet] 102 / 7739
12
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
13
 (HPO:0006482) Abnormality of dental morphology Very frequent [Orphanet] 81 / 7739
14
 (HPO:0003771) Pulp stones 6 / 7739
15
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
16
 (HPO:0000668) Hypodontia 81 / 7739
17
 (HPO:0000479) Abnormality of the retina Occasional [Orphanet] 74 / 7739
18
 (HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
19
 (HPO:0100719) Lens coloboma Occasional [Orphanet] 4 / 7739
20
 (HPO:0001100) Heterochromia iridis Occasional [Orphanet] 31 / 7739
21
 (HPO:0000589) Coloboma rare [HPO:skoehler] 47 / 7739
22
 (HPO:0008056) Aplasia/Hypoplasia affecting the eye Occasional [Orphanet] 142 / 7739
23
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
24
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
25
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
26
 (HPO:0000407) Sensorineural hearing impairment Frequent [Orphanet] 524 / 7739
27
 (HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
28
 (HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
29
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
30
 (OMIM) Absence of teeth, variable (primarily the first and second premolars) 2 / 7739
31
 (OMIM) Large, bulbous crowns of primary and secondary canines and molars (globodontia) 2 / 7739
32
 (OMIM) Double pulp chambers 2 / 7739
33
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
34
 (OMIM) Microdeletion of chromosome 11q13 (43-490kb) 2 / 7739
35
 (OMIM) Enamel defect 3 / 7739
36
 (OMIM) Ankylosis of primary molars 2 / 7739
37
 (OMIM) Full-cheek appearance 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Otodental syndrome is an autosomal dominant condition characterized by grossly enlarged canine and molar teeth (globodontia), associated with sensorineural hearing loss. Ocular coloboma segregating with otodental syndrome has been reported (summary by Gregory-Evans et al., 2007).
Clinical Description OMIM Levin et al. (1975) and Levin and Jorgenson (1972, 1974) described a syndrome of sensorineural hearing loss and dental anomalies in a 6-generation kindred of Italian ancestry. A high frequency hearing loss varied in onset from early childhood ...
Molecular genetics OMIM In a Brazilian ('OD1') and a Belgian ('OD3') family with otodental syndrome, originally described by de Toledo et al. (1971) and Van Doorne et al. (1998), respectively, and in a British family with otodental syndrome and coloboma ('OD2'), ...