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Disease Profile

Otodental dysplasia

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Childhood

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ICD-10

K00.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Categories

Congenital and Genetic Diseases; Mouth Diseases

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
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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.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of canine
Abnormality of eye tooth
0011078
Carious teeth
Dental cavities
Tooth cavities
Tooth decay

[ more ]

0000670
Progressive sensorineural hearing impairment
0000408
30%-79% of people have these symptoms
Abnormality of dental enamel
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality

[ more ]

0000682
Abnormality of the maxilla
Abnormality of the upper jaw bone
Abnormality of the upper jaw bones

[ more ]

0000326
Agenesis of premolar
0011051
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils

[ more ]

0000463
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption

[ more ]

0000684
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Gingival overgrowth
Gum enlargement
0000212
High-frequency sensorineural hearing impairment
0001757
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face

[ more ]

0000276
Long philtrum
0000343
Periodontitis
0000704
Pulp stones
0003771
Taurodontia
0000679
5%-29% of people have these symptoms
Cataract
Clouding of the lens of the eye
Cloudy lens

[ more ]

0000518
Coloboma
Notched pupil
0000589
Iris coloboma
Cat eye
0000612
Lens coloboma
0100719
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Microphthalmia
Abnormally small eyeball
0000568
Odontoma
0011068
Otitis media with effusion
Fluid behind eardrum
0031353
Retinal coloboma
Hole in the back of the eye
0000480
Percent of people who have these symptoms is not available through HPO
Ankylosis
0031013
Autosomal dominant inheritance
0000006
Hypodontia
Failure of development of between one and six teeth
0000668
Sensorineural hearing impairment
0000407

Learn more

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Otodental dysplasia. Click on the link to view a sample search on this topic.