National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Otodental dysplasia



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

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.
Last updated: 11/1/2012

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.

Showing of 29 |
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
Showing of 29 |
Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources


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.

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