Otodental Dysplasia

Categories: Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Otodental Dysplasia

MalaCards integrated aliases for Otodental Dysplasia:

Name: Otodental Dysplasia 57 53 59 29 13 73
Otodental Syndrome 57 76 59
Oculootodental Syndrome 59 73
Otodental Dysplasia Chromosome Deletion Syndrome 57
Chromosome 11q13 Deletion Syndrome 57
Globodontia 59
Ood 59


Orphanet epidemiological data:

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


autosomal dominant

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


otodental dysplasia:
Inheritance autosomal dominant inheritance


Summaries for Otodental Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2791Disease definitionOtodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss.EpidemiologyPrevalence of this disorder is not known. It has been described in about 10 families of European, Chinese and Brazilian descent.Clinical descriptionPatients 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.EtiologyHaploinsufficiency 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 methodsThe dental findings are diagnostic. Molecular genetic testing confirms the diagnosis.Differential diagnosisAlthough 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 counselingThe 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 treatmentDental 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.PrognosisThe functional prognosis is mostly good with appropriate dental treatment and hearing aids. Quality of life may be affected by psychological and functional aspects.Visit the Orphanet disease page for more resources.

MalaCards based summary : Otodental Dysplasia, also known as otodental syndrome, is related to ectodermal dysplasia and ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. 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 testes and eye, and related phenotypes are gingival overgrowth and cataract

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)

Wikipedia : 76 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:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10.0
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.9
3 odontoma 9.9
4 inner ear disease 9.0 FADD FGF3

Symptoms & Phenotypes for Otodental Dysplasia

Symptoms via clinical synopsis from OMIM:

Head And Neck Face:
long philtrum
long face
full-cheek appearance

Head And Neck Nose:
anteverted nostrils

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

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

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

Clinical features from OMIM:


Human phenotypes related to Otodental Dysplasia:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingival overgrowth 59 32 frequent (33%) Frequent (79-30%) HP:0000212
2 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
3 carious teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000670
4 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
5 full cheeks 59 32 frequent (33%) Frequent (79-30%) HP:0000293
6 long philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000343
7 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
8 microphthalmia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000568
9 odontoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0011068
10 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
11 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
12 taurodontia 59 32 frequent (33%) Frequent (79-30%) HP:0000679
13 periodontitis 59 32 frequent (33%) Frequent (79-30%) HP:0000704
14 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
15 microcornea 59 32 occasional (7.5%) Occasional (29-5%) HP:0000482
16 pulp stones 59 32 frequent (33%) Frequent (79-30%) HP:0003771
17 progressive sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000408
18 retinal coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000480
19 abnormality of canine 59 32 hallmark (90%) Very frequent (99-80%) HP:0011078
20 abnormality of the maxilla 59 32 frequent (33%) Frequent (79-30%) HP:0000326
21 high-frequency sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0001757
22 agenesis of premolar 59 32 frequent (33%) Frequent (79-30%) HP:0011051
23 otitis media with effusion 59 32 occasional (7.5%) Occasional (29-5%) HP:0031353
24 lens coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0100719
25 sensorineural hearing impairment 32 HP:0000407
26 hypodontia 32 HP:0000668
27 coloboma 32 occasional (7.5%) HP:0000589
28 abnormality of the dental pulp 59 Very frequent (99-80%)
29 abnormality of molar morphology 59 Very frequent (99-80%)

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 Dysplasia 29

Anatomical Context for Otodental Dysplasia

MalaCards organs/tissues related to Otodental Dysplasia:

Testes, Eye

Publications for Otodental Dysplasia

Articles related to Otodental Dysplasia:

# Title Authors Year
Otodental dysplasia: a five year study. ( 7227680 )
Otodental dysplasia: a &amp;quot;new&amp;quot; ectodermal dysplasia. ( 1175318 )
Otodental dysplasia. ( 1218202 )

Variations for Otodental Dysplasia

Copy number variations for Otodental Dysplasia from CNVD:

# CNVD ID Chromosom 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 ORAOV1 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
Show member pathways
11.78 FADD FGF3
2 11.34 FADD FGF3

GO Terms for Otodental Dysplasia

Sources for Otodental Dysplasia

9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
70 SNOMED-CT via Orphanet
72 Tocris
74 UMLS via Orphanet
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