Paula and Bobby
Parents of Lillie
Witteveen-Kolk syndrome (WITKOS)
What is Witteveen-Kolk syndrome (WITKOS)?
Witteveen-Kolk syndrome is a rare neuro-developmental disorder.
The syndrome is characterized by developmental delay and intellectual disability. As well as by unique facial characteristics and a short stature.
The syndrome occurs in less than 1 in 1000000 people worldwide making it extremely rare. It affects males and females equally. Currently just 40 individuals in the world have been diagnosed with the syndrome.
The syndrome is also known as 15q24 Microdeletion syndrome.
What gene changes cause Witteveen-Kolk syndrome (WITKOS)?
The syndrome is caused when a small piece of chromosome 15 is deleted in each cell. It follows an autosomal dominant pattern of inheritance. Some cases of the syndrome are new mutations.
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.
What are the main symptoms of Witteveen-Kolk syndrome (WITKOS)?
Global development delay and mild to severe intellectual disability, as well as delayed speech development are common features of the syndrome.
Physical characteristics of the condition include a short stature, weak muscle tone and loose joints. Unique facial features include a small head, small hands and feets, abnormalities in the digits of the hands and feet, a full lower lip, long philtrum, high hairline, widely set eyes, broad eyebrows and a broad nasal bridge.
How does someone get tested for Witteveen-Kolk syndrome (WITKOS)?
The initial testing for Witteveen-Kolk 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.
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.
What is FDNA Telehealth?
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