Wieacker-Wolff syndrome

What is Wieacker-Wolff syndrome?

Wieacker-Wolff syndrome 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 males, and affected females may have very mild symptoms if any.

This syndrome is also known as:
MCS Mental Retardation, X-linked, Syndromic 4; MRXS4 Mental Retardation, X-linked, with Congenital Contractures and Low Fingertip Arches; MRXS4; Miles-Carpenter Mental Retardation syndrome; Contractures of Feet, Muscle Atrophy, and Oculomotor Apraxia.

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 on to 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 individual’s physical movement and ability. These symptoms may worsen with time and age.
  • The syndrome is characterized by distinctive facial features such as drooping eyelids, crossed eyes, and farsightedness. Additional traits may involve difficulty in eye movement and impaired mobility of the facial and tongue muscles.
  • Mild intellectual disability is also common with the syndrome.

Possible clinical traits/features:
Talipes, Microcephaly, Strabismus, X-linked inheritance, Decreased body weight, Microcornea, Distal amyotrophy, Congenital contracture, Facial asymmetry, Exotropia, Intellectual disability, Abnormal dermatoglyphics, Joint hypermobility, Abnormality of the genital system, Cognitive impairment, Abnormality of the skin.

How is it diagnosed?

To find out if someone has a diagnosis of Wieacker-Wolff syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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