OOD
MCID: OTD001
MIFTS: 32

Otodental Dysplasia (OOD)

Categories: Ear diseases, Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Otodental Dysplasia

MalaCards integrated aliases for Otodental Dysplasia:

Name: Otodental Dysplasia 57 20 58 13 70
Otodental Syndrome 57 73 58 29
Oculootodental Syndrome 58 70
Otodental Dysplasia Chromosome Deletion Syndrome 57
Chromosome 11q13 Deletion Syndrome 57
Globodontia 58
Ood 58

Characteristics:

Orphanet epidemiological data:

58
otodental syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
oculootodental syndrome
Prevalence: <1/1000000 (Worldwide);

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
coloboma is associated with larger microdeletion (490kb) of 11q13


HPO:

31
otodental dysplasia:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

OMIM® 57 166750
ICD10 via Orphanet 33 K00.2 K07.8
UMLS via Orphanet 71 C1833693 C2750325
MedGen 41 C1833693
UMLS 70 C1833693 C2750325

Summaries for Otodental Dysplasia

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2791 Definition Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss. Epidemiology Prevalence of this disorder is not known. It has been described in about 10 families of European, Chinese and Brazilian descent. Clinical description Patients have striking pathognomonic dental features characterized by globodontia of the primary and secondary dentition, sparing the incisors. Missing teeth, especially premolars, are also reported. Due to abnormal crown morphology, there is a great propensity to formation of caries. There is a high rate of endodontic-periodontic lesions due to the aberrant coronal and pulpal morphology. The dental conditions are associated with bilateral sensorineural high-frequency hearing deficit with an age of onset that varies from early childhood to middle age. Variable facial dysmorphism has also been reported. One family was found to have an associated bilateral iris and retinal ocular coloboma. Etiology Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype. In the family with the associated ocular coloboma, a microdeletion in the Fas-associated death domain (FADD) gene (11q13.3) was found to be responsible for ocular features. Diagnostic methods The dental findings are diagnostic. Molecular genetic testing confirms the diagnosis. Differential diagnosis Although the association of sensorineural hearing loss and dental anomalies can be found in other syndromes, none display the striking dental manifestations of otodental syndrome. Genetic counseling The condition appears to be inherited in an autosomal dominant manner with complete to variable penetrance and variable expressivity. Genetic counseling should be offered to affected families. Management and treatment Dental management is complex, interdisciplinary and requires regular follow up, scheduled tooth extraction and eventually orthodontic treatment. Monitoring of hearing and, if necessary, hearing aids are mandatory. A preventive program is mandatory in order to maintain proper oral hygiene and health. Endodontic therapy can be difficult due to duplicated pulp canals in the affected posterior teeth. Multiple extractions may be needed and fixed or removable prostheses should be constructed. Implants are also a potential consideration. Prognosis The functional prognosis is mostly good with appropriate dental treatment and hearing aids. Quality of life may be affected by psychological and functional aspects.

MalaCards based summary : Otodental Dysplasia, also known as otodental syndrome, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and sensorineural hearing loss. An important gene associated with Otodental Dysplasia is OTDD (Otodental Dysplasia Chromosome Deletion Syndrome), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Pathways in cancer. Affiliated tissues include eye and heart, and related phenotypes are carious teeth and progressive sensorineural hearing impairment

OMIM® : 57 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). (166750) (Updated 20-May-2021)

Wikipedia : 73 Otodental syndrome, also known as otodental dysplasia, is an exceptionally rare disease that is... more...

Related Diseases for Otodental Dysplasia

Diseases related to Otodental Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
2 sensorineural hearing loss 10.2
3 odontoma 10.1
4 coloboma of macula 10.0
5 branchiootic syndrome 1 10.0
6 ptosis 10.0
7 microcephaly 10.0
8 microtia 10.0
9 hair whorl 10.0
10 ectodermal dysplasia 10.0
11 taurodontism 10.0
12 ventricular septal defect 10.0
13 heart septal defect 10.0
14 atrial heart septal defect 10.0
15 cataract 10.0
16 inner ear disease 9.5 FGF3 FADD

Graphical network of the top 20 diseases related to Otodental Dysplasia:



Diseases related to Otodental Dysplasia

Symptoms & Phenotypes for Otodental Dysplasia

Human phenotypes related to Otodental Dysplasia:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000670
2 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
3 abnormality of canine 58 31 hallmark (90%) Very frequent (99-80%) HP:0011078
4 gingival overgrowth 58 31 frequent (33%) Frequent (79-30%) HP:0000212
5 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
6 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
7 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
8 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
9 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
10 taurodontia 58 31 frequent (33%) Frequent (79-30%) HP:0000679
11 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
12 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
13 abnormality of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000326
14 high-frequency sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0001757
15 pulp stones 58 31 frequent (33%) Frequent (79-30%) HP:0003771
16 agenesis of premolar 58 31 frequent (33%) Frequent (79-30%) HP:0011051
17 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
18 odontoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0011068
19 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
20 microphthalmia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000568
21 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
22 retinal coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000480
23 lens coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0100719
24 otitis media with effusion 58 31 occasional (7.5%) Occasional (29-5%) HP:0031353
25 coloboma 31 occasional (7.5%) HP:0000589
26 sensorineural hearing impairment 31 HP:0000407
27 hypodontia 31 HP:0000668
28 abnormality of the dental pulp 58 Very frequent (99-80%)
29 abnormality of molar morphology 58 Very frequent (99-80%)
30 ankylosis 31 HP:0031013

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
long face
long philtrum
full-cheek appearance

Head And Neck Nose:
anteverted nostrils

Head And Neck Eyes:
coloboma (in some patients with larger microdeletion)

Head And Neck Teeth:
taurodontia
pulp stones
enamel defects
large, bulbous crowns of primary and secondary canines and molars (globodontia)
double pulp chambers
more
Head And Neck Ears:
hearing loss, sensorineural (high frequency)

Laboratory Abnormalities:
microdeletion of chromosome 11q13 (43-490kb)

Clinical features from OMIM®:

166750 (Updated 20-May-2021)

Drugs & Therapeutics for Otodental Dysplasia

Search Clinical Trials , NIH Clinical Center for Otodental Dysplasia

Genetic Tests for Otodental Dysplasia

Genetic tests related to Otodental Dysplasia:

# Genetic test Affiliating Genes
1 Otodental Syndrome 29

Anatomical Context for Otodental Dysplasia

MalaCards organs/tissues related to Otodental Dysplasia:

40
Eye, Heart

Publications for Otodental Dysplasia

Articles related to Otodental Dysplasia:

(show all 28)
# Title Authors PMID Year
1
SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma. 61 57
17656375 2007
2
Otodental syndrome: a case report and genetic considerations. 61 57
11552150 2001
3
Otodental syndrome. A case report. 57 61
9565269 1998
4
The association of ocular defects with the otodental syndrome. 61 57
6427358 1983
5
Otodental dysplasia: a five year study. 57 61
7227680 1981
6
Otodental dysplasia: a "new" ectodermal dysplasia. 57 61
1175318 1975
7
First genomic localization of oculo-oto-dental syndrome with linkage to chromosome 20q13.1. 57
12147582 2002
8
Three years of follow-up of otodental syndrome in 3-year-old Chinese boy: a rare case report. 61
31345197 2019
9
Clinical, pathological, and genetic evaluations of Chinese patient with otodental syndrome and multiple complex odontoma: Case report. 61
28151902 2017
10
Chromosome 11q13 deletion syndrome. 61
28018436 2016
11
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. 61
26502894 2016
12
Globodontia in the Otodental Syndrome: A Rare Defect of Tooth Morphology Occurring with Hearing Loss in an Eight-Year-Old. 61
26855998 2015
13
Otodental syndrome: a case presentation in a 6-year old child. 61
25101506 2014
14
LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations. 61
21480479 2011
15
Otodental syndrome. 61
16722606 2006
16
Otodental syndrome: a case report. 61
16532889 2005
17
Otodental syndrome, oculo-facio-cardio-dental (OFCD) syndrome, and lobodontia: dental disorders of interest to the pediatric radiologist. 61
9799305 1998
18
Otodental syndrome: three familial case reports. 61
9635320 1998
19
Otodental syndrome. 61
9171041 1996
20
"Otodental" dysplasia. 61
3050710 1988
21
Case report: a possible variant of otodental syndrome. 61
3861832 1985
22
[Odontomas and pan-tonal hearing loss in the otodental syndrome]. 61
6585292 1984
23
[Globodontia--a new familial tooth abnormality]. 61
265255 1977
24
Clinical aspects of dental anomalies. 61
186412 1976
25
Globodontia in the otodental syndrome. 61
1063348 1976
26
Otodental dysplasia. 61
1218202 1975
27
[Parafunction of the masticatory apparatus as cause of an otodental syndrome. 2]. 61
5258548 1969
28
[Parafunction of the masticatory apparatus a cause of an otodental syndrome. 1]. 61
5255997 1969

Variations for Otodental Dysplasia

Copy number variations for Otodental Dysplasia from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 57119 11 63100000 76700000 Deletion CTTN oto-dental syndrome
2 57120 11 63100000 76700000 Deletion FADD oto-dental syndrome
3 57121 11 63100000 76700000 Deletion FGF3 oto-dental syndrome
4 57123 11 63100000 76700000 Deletion LTO1 oto-dental syndrome
5 57124 11 63100000 76700000 Deletion PPFIA1 oto-dental syndrome

Expression for Otodental Dysplasia

Search GEO for disease gene expression data for Otodental Dysplasia.

Pathways for Otodental Dysplasia

Pathways related to Otodental Dysplasia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.79 FGF3 FADD
2 11.35 FGF3 FADD

GO Terms for Otodental Dysplasia

Sources for Otodental Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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