A Visit with a Clinical Geneticist or Genetic Counselor
At least half of all nerve-based hearing loss (SNHL) in young children is genetic. Children with SNHL are sometimes referred to a clinical geneticist and genetic counselor for further evaluation of their hearing loss.
Who are a clinical geneticist and genetic counselor?
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 masters-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 the family as they use genetic test results to make medical decisions.
What should I expect during my first visit to Genetics?
During your first visit to Genetics, 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.
What is a genetic syndrome?
About 30% of children with SNHL have a genetic syndrome as part of their hearing loss. A syndrome is an association of medical problems which occur together and which have a single cause. Genetic testing (on either a clinical or research basis) is available for many of these conditions.
Some of the common genetic syndromes associated with hearing loss include:
| Syndrome | Genetic Pattern | Non-Hearing Related Disorders |
| Pendred | Autosomal Recessive | Thyroid enlargement and dysfunction, temporal (ear) bone anomalies |
| Waardenburg | Autosomal Dominant | Skin pigmentation, eye, and hair color, broad nose |
| Brachio-oto-renal | Autosomal Dominant
| Neck cysts, ear and kidney malformations |
| Jervell and Lange-Neilsen Syndrome | Autosomal Recessive
| Cardiac arrythmias |
| Alport | All types | Kidney and some blood clotting problems |
| Usher Syndromes | Autosomal Recessive | Vision and balance problems |
| Stickler | Autosomal Dominant | Vision problems, arthritis, and unusual facial features |
| Neurofibromatosis Type 2 | Autosomal Dominant | Tumors of the hearing/auditory nerve |
| Treacher-Collins | Autosomal Dominant | Unusual facial features |
To schedule an evaluation with a genetics specialist, please call the Division of Human Genetics at 513-636-4760 option 1.
