Acrocallosal syndrome (ACLS)

What is Acrocallosal syndrome (ACLS)?

This rare disease is a genetic condition which was first identified in 1970 by Dr. Schnizel. Since then there have been just 25 cases diagnosed worldwide to date.

It is a syndrome which affects the development of the brain, and intellectual disability is a defining feature of it.

The syndrome is an inherited condition and due to the severity of its symptoms, it is usually identified at birth.

What gene changes cause Acrocallosal syndrome (ACLS)?

The syndrome is caused by mutations in the KIF7 gene. It is inherited in an autosomal recessive pattern.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Acrocallosal syndrome (ACLS)?

The syndrome affects the development of the thick bank of nerve fibers that join the two hemispheres of the brain. This leads to moderate to severe intellectual disability in affected individuals.

Symptoms may vary considerably between individuals including individuals within the same family. But they are usually obvious enough in all affected individuals for the syndrome to be identified at birth.

Features related to the syndrome mainly affect the skull and face. These include a very large head and forehead. Widely spaced eyes, a small nose and broad bridge.

Webbing of the fingers or toes, or missing fingers and toes is also common. As is a short stature.

How does someone get tested for Acrocallosal syndrome (ACLS)?

The initial testing for Acrocallosal syndrome (ACLS) 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.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

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