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Πέμπτη 18 Ιουλίου 2019


A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Deafness oligodontia ...

Deafness oligodontia syndrome

Other Names: Congenital profound sensorineural deafness and oligodontia; Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia
Categories: Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
Summary
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet
Orpha Number: 3230

Disease definition
Deafness-oligodontia syndrome is characterised by sensorineural hearing loss and oligodontia/hypodontia. It has been described in two pairs of siblings and in one isolated case. Dizziness was reported in one of the pairs of siblings. Transmission appears to be autosomal recessive.

Visit the Orphanet disease page for more resources.
Last updated: 6/22/2007
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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Oligodontia
Failure of development of more than six teeth
0000677
Sensorineural hearing impairment 0000407
30%-79% of people have these symptoms
Vertigo
Dizzy spell
0002321
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Congenital sensorineural hearing impairment 0008527
Showing 1-5 of 6 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 7/1/2019
Do you have updated information on this disease? We want to hear from you.
Find a Specialist
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
To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
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 Deafness oligodontia syndrome. Click on the link to view a sample search on this topic.

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