What is Weissenbacher-Zweymüller Syndrome & How is it Treated?

What Is Weissenbacher-Zweymuller Syndrome?

Weissenbacher-Zweymüller Syndrome is a genetic pathological condition caused by mutation in the COL11A2 gene resulting in abnormalities in the development of bones of the child. Hearing loss is yet another abnormality that is seen individuals with Weissenbacher-Zweymüller Syndrome.

Such individuals also tend to have distinct facial features. Children born with Weissenbacher-

Zweymüller Syndrome tend to be smaller than what is the average length of a normal child. This is because of the underdeveloped bones of the hands and legs as they tend to be abnormally short. The bones of the spinal cord are also abnormally shaped in children with Weissenbacher-Zweymüller Syndrome. The facial features seen in children with Weissenbacher-Zweymüller Syndrome include wide set eyes and an underdeveloped lower jaw along with a cleft palate.

The skeletal characteristics of this condition fade out as the child grows and becomes very minimal in adulthood but the affected individual still retains the other characteristics of Weissenbacher-Zweymüller Syndrome.

What Are The Causes Of Weissenbacher-Zweymuller Syndrome?

As stated, the root cause for development of Weissenbacher-Zweymüller Syndrome is mutations in gene COL11A2. This gene is responsible for producing type XI collagen which is an essential element for normal development of bones and other connective tissues in a child.

This collagen is also very essential in overall development of the musculoskeletal system and provides a support structure to the body. The mutation of this gene results in the type XI collagen not being normally produced causing delays in the development of bones and other connective tissues of the body resulting in the child having the characteristic features of Weissenbacher-Zweymüller Syndrome.

While in majority of the cases this mutation occurs as a de novo mutation or a new mutation with no pattern of inheritance there have been some cases where the mutation has followed an autosomal dominant pattern meaning that one copy of the faulty gene inherited is enough for the development of Weissenbacher-Zweymüller Syndrome.

What Are The Symptoms Of Weissenbacher-Zweymuller Syndrome?

Skeletal malformations are the most prominent features of Weissenbacher-Zweymüller Syndrome; additionally, hearing loss and psychomotor delays also form a part of Weissenbacher-Zweymüller Syndrome.

The symptoms shown by a child are significantly variable and differ on a case to case basis. Abnormally short bones of the hands and legs are the most prominent feature of Weissenbacher-Zweymüller Syndrome. Additionally, a child will have distinct facial features like abnormally wide set eyes and a cleft palate.

Affected children will have also delays in reaching their milestones and may also show psychomotor retardation where they may lose the ability to do certain things which they may have learned earlier in infancy.

The musculoskeletal abnormalities tend to fade away as the child grows and by the time the child reaches adolescence most of the skeletal abnormalities normalize. There is no affect on the height and weight of an individual with Weissenbacher-Zweymüller Syndrome.

The mental development of the child becomes normal by the time the child is around 6 or 7 years of age which initially they may have lost as a result of Weissenbacher-Zweymüller Syndrome.

How Is Weissenbacher-Zweymuller Syndrome Diagnosed?

A diagnosis of Weissenbacher-Zweymüller Syndrome can be made based on the distinct physical features that are associated with this condition and with which the child is born.

The skeletal deformities can be confirmed through radiographs in the form of x-rays which will clearly show underdeveloped bones especially of the hands and feet.

Additionally, a genetic testing may be conducted which will clearly show mutation in the gene COL11A2 which will confirm the diagnosis of Weissenbacher-Zweymüller Syndrome.

How Is Weissenbacher-Zweymuller Syndrome Treated?

The treatment for Weissenbacher-Zweymüller Syndrome is basically symptomatic and differs from individual to individual. This requires combined efforts from variety of specialists from pediatrics, orthopedics, and audiologists to monitor hearing loss among other professionals who can formulate the best treatment plan for the patient with Weissenbacher-Zweymüller Syndrome.

Hearing aids may be required to counter the hearing loss that is a main feature of Weissenbacher-Zweymüller Syndrome. Surgical intervention may be required for treating certain skeletal deformities, although in majority of the cases most of the skeletal abnormalities normalize as the child grows despite Weissenbacher-Zweymüller Syndrome.

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:June 26, 2018

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