Otodental Dysplasia (OOD)

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Otodental Dysplasia

MalaCards integrated aliases for Otodental Dysplasia:

Name: Otodental Dysplasia 58 54 60 30 13 74
Otodental Syndrome 58 77 60
Oculootodental Syndrome 60 74
Otodental Dysplasia Chromosome Deletion Syndrome 58
Chromosome 11q13 Deletion Syndrome 58
Globodontia 60
Ood 60


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 : 54 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 carious teeth and progressive sensorineural hearing impairment

OMIM : 58 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 : 77 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 10.1
2 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
3 odontoma 10.1
4 inner ear disease 9.5 FADD FGF3

Symptoms & Phenotypes for Otodental Dysplasia

Human phenotypes related to Otodental Dysplasia:

60 33 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 carious teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000670
2 progressive sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000408
3 abnormality of canine 60 33 hallmark (90%) Very frequent (99-80%) HP:0011078
4 gingival overgrowth 60 33 frequent (33%) Frequent (79-30%) HP:0000212
5 anteverted nares 60 33 frequent (33%) Frequent (79-30%) HP:0000463
6 full cheeks 60 33 frequent (33%) Frequent (79-30%) HP:0000293
7 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
8 delayed eruption of teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000684
9 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
10 long face 60 33 frequent (33%) Frequent (79-30%) HP:0000276
11 taurodontia 60 33 frequent (33%) Frequent (79-30%) HP:0000679
12 periodontitis 60 33 frequent (33%) Frequent (79-30%) HP:0000704
13 abnormality of the maxilla 60 33 frequent (33%) Frequent (79-30%) HP:0000326
14 high-frequency sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0001757
15 pulp stones 60 33 frequent (33%) Frequent (79-30%) HP:0003771
16 agenesis of premolar 60 33 frequent (33%) Frequent (79-30%) HP:0011051
17 cataract 60 33 occasional (7.5%) Occasional (29-5%) HP:0000518
18 microphthalmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000568
19 odontoma 60 33 occasional (7.5%) Occasional (29-5%) HP:0011068
20 iris coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000612
21 microcornea 60 33 occasional (7.5%) Occasional (29-5%) HP:0000482
22 retinal coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0000480
23 otitis media with effusion 60 33 occasional (7.5%) Occasional (29-5%) HP:0031353
24 lens coloboma 60 33 occasional (7.5%) Occasional (29-5%) HP:0100719
25 coloboma 33 occasional (7.5%) HP:0000589
26 sensorineural hearing impairment 33 HP:0000407
27 hypodontia 33 HP:0000668
28 abnormality of the dental pulp 60 Very frequent (99-80%)
29 abnormality of molar morphology 60 Very frequent (99-80%)
30 ankylosis 33 HP:0031013

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

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

Clinical features from OMIM:


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 30

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
11.79 FADD FGF3
2 11.35 FADD FGF3

GO Terms for Otodental Dysplasia

Sources for Otodental Dysplasia

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
33 HPO
34 ICD10
35 ICD10 via Orphanet
39 LifeMap
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
56 Novoseek
59 OMIM via Orphanet
63 PubMed
71 SNOMED-CT via Orphanet
73 Tocris
75 UMLS via Orphanet
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