Wieacker-Wolff syndrome

What is Wieacker-Wolff syndrome?

It is a progressive genetic syndrome, meaning its symptoms worsen with time. It is present at birth. Its main symptoms include deformities of the joints of the feet, muscle degeneration, and an inability to move certain parts of the face including the muscles of the eyes and tongue. Up to 2015 the syndrome had been reported in just 5 families. Due to the nature of its inheritance the syndrome is more common in makes, and affected females may have very mild symptoms if any.

What gene changes cause Wieacker-Wolff syndrome?

Mutations in the ZC4H2 gene cause the syndrome.

The syndrome is inherited in an X-linked recessive pattern. This means females are carriers of the syndrome, but are rarely affected. Males are usually more severely affected by the syndrome but can not pass it on to their sons, they pass it onto their daughters who become carriers.

What are the main symptoms of Wieacker-Wolff syndrome?

The main symptoms of the syndrome include a stiffening of the joints and muscles of the feet. This combines with the gradual weakening or atrophy of specific leg and arm muscles which may impact on an affected individuals physical movement and ability. These symptoms may worsen with time and age.

Unique facial features of the syndrome include droopy eyelids, crossed eyes, and farsightedness. These features may also include an inability to move the eyes and issues in the face and tongue muscles which affect their movement.

Mild intellectual disability is also common with the syndrome.

How does someone get tested for Wieacker-Wolff syndrome?

The initial testing for Wieacker-Wolff syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

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