Pendred Syndrome
What is Pendred syndrome?
Pendred syndrome is a genetic disorder that causes early hearing loss
in children. It also can affect the thyroid gland and sometimes may affect a
person's balance. The syndrome is named after Vaughan Pendred, the physician who
first described individuals with the disorder.
Children who are born with Pendred syndrome may begin to
lose their hearing at birth or by the time they are three years old. The hearing
loss is progressive, which means that a child will have less hearing over time. Some
individuals may become totally deaf.
The loss of hearing often happens suddenly and in
stages. Sometimes, after a sudden decrease in hearing, a person's hearing will
nearly return to its previous level. Almost all people with Pendred syndrome
have bilateral hearing loss, or hearing loss in both ears. The hearing loss
often is greater in one ear
than in the other.
How does Pendred syndrome affect other parts of the body?
Pendred syndrome can affect the thyroid by causing it to
grow too large. An enlarged thyroid gland also is called a goiter. The thyroid is
a small, butterfly-shaped gland in the front of your neck, just above your collarbones. The thyroid plays a major
role in how your body uses energy from food. In children, the thyroid is
important for normal growth and development. Children with Pendred syndrome,
however, rarely have problems growing and developing properly even if their
thyroid is affected.
Roughly 60 percent of individuals with Pendred syndrome will develop a goiter
in their lifetime. Most people with Pendred syndrome are in their teens or
twenties before they develop a goiter. If a goiter becomes large, a person may
have problems breathing and swallowing. A health professional is needed to check
a person's goiter over time and decide what treatment is necessary.
Pendred syndrome also may affect the vestibular system,
which controls balance. About 40 percent of individuals with Pendred syndrome
will show some vestibular weakness when their balance system is tested. However,
the brain is
very good at making up for a weak vestibular system, and most children and
adults with Pendred syndrome do not have a problem with their balance or have
difficulty doing routine tasks. Some babies with Pendred syndrome may start
walking later than other babies.
It is not known why some individuals with Pendred syndrome develop a goiter
or have balance problems and others do not.
Next: What causes Pendred syndrome? »
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