Pendred Syndrome

Pendred Syndrome

About Pendred Syndrome

Pendred syndrome is an autosomal recessive disorder usually characterized by hearing loss in both ears and enlargement of the thyroid gland, but with its normal function (goiter). The symptoms usually occur right after the birth or within a few days. More than 50 % of cases are caused by pathogenic mutations in the SLC26A4 gene, and the symptoms can range from mild to severe.

Recommendations

Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

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Recommendations

Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation

Sources

We are currently working on preparing a better list of references and studies. It will be ready soon!

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