Ear, Nose, and Throat Diseases

Can repeated ear infections be a sign of a genetic disease? Can an odor in a person's sweat be caused by a genetic disease? And at some point in most of our lives we have experienced a nosebleed and thought nothing of it, but could this be due to a rare genetic disease? The answer to all these questions are yes.

Inherited genetic defects play an important role in babies born with hearing loss and contribute to ~60% of deafness in infants. Low platelets can signal easy bruising and bleeding and be an early warning sign of one of the most common lysosomal storage disease- Gaucher disease.

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