A clinical geneticist is a physician who has special training in determining the causes of various disorders like hearing loss. A clinical geneticist often works with a genetic counselor. A genetic counselor is a master’s-level professional who is specially trained to explain genetic information to families and to help them to use that information in making medical decisions.
A clinical geneticist and genetic counselor may:
- Identify a particular genetic syndrome as the cause of a child’s hearing loss
- Help the family understand the process of genetic testing
- Arrange for appropriate genetic tests
- Interpret genetic test results in a meaningful way
- Support family members as they use genetic test results to make medical decisions.
Your First Visit
During your first visit to the genetics clinic, you will be asked many questions about your child’s medical history, your pregnancy history and your family history. The geneticist will also examine your child to determine if there are any signs of a genetic syndrome related to hearing loss. The geneticist may also arrange for additional tests and a follow-up visit to discuss test results.
Genetic Syndromes
About 30 percent of children with SNHL have a genetic syndrome as part of their hearing loss. A syndrome is an association of medical problems that occur together and have a single cause. Genetic testing (on either a clinical or research basis) is available for many of these conditions.
Some of the genetic syndromes associated with hearing loss include:
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Syndrome
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Genetic Pattern
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Non-Hearing Related Disorders
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Pendred
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Autosomal Recessive
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Thyroid enlargement and dysfunction, temporal (ear) bone anomalies
|
|
Waardenburg
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Autosomal Dominant
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Skin pigmentation, eye, and hair color, broad nose
|
|
Branchio-oto-renal
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Autosomal Dominant
|
Neck cysts, ear and kidney malformations
|
|
Jervell and Lange-Nielsen
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Autosomal Recessive
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Cardiac arrhythmias
|
|
Alport
|
All types
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Kidney and some blood clotting problems
|
|
Usher syndromes
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Autosomal Recessive
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Vision and balance problems
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|
Stickler
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Autosomal Dominant
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Vision problems, arthritis and unusual facial features
|
|
Neurofibromatosis Type 2
|
Autosomal Dominant
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Tumors of the hearing / auditory nerve
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|
Treacher-Collins
|
Autosomal Dominant
|
Unusual facial features
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Make an Appointment
To schedule an evaluation for your child, contact the Ear and Hearing Center at 513-636-2171.