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.

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 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 individual’s 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.

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 Wieacker-Wolff syndrome 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.

Evaluation

Don’t let your questions stay questions

Ease your concerns, gain a better understanding of your child’s development process, and connect with medical professionals in your area.

Check your child

Share this syndrome

Share this syndrome

Other childhood syndromes

More syndromes

Syndromes & Disorders

Weiss-Kruszka syndrome (WSKA)

It is a multiple congenital anomaly syndrome that has been recently identified. There are just 24 potential cases currently reported worldwide. It is also known as Weiss-Kruska syndrome. The gene responsible for the disorder is the ZNF462 gene.

Read more
Syndromes & Disorders

Yunis-Varon syndrome (YVS)

It is a rare genetic disease that affects multiple systems of the body. Its main symptoms affect the skeletal and nervous systems, as well as ectodermal tissue (hair and teeth). Since 1980 just 25 cases from 19 families have been diagnosed and recorded. This syndrome is also known as: Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia

Read more
Syndromes & Disorders

Xia-Gibbs syndrome (XIGIS)

It is a rare genetic syndrome associated mainly with intellectual disability. This syndrome is also known as: Mental Retardation, Autosomal Dominant 25; Mrd25 Changes in the AHDC1 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene. In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation. In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.

Read more