Wiedemann-Steiner syndrome (WDSTS)

What is Wiedemann-Steiner syndrome (WDSTS)?

Wiedermann-Steiner syndrome, or Wiedemann Grosse Dibbern syndrome as it is also known, was only genetically identified in 2012.

It is characterized by short stature and the overgrowth of hair on the elbows (hypertrichosis cubiti). Developmental delay and unique facial features are also characteristic of the syndrome.

What gene changes cause Wiedemann-Steiner syndrome (WDSTS)?

The syndrome is caused by a mutation of the gene KMT2A on chromosome 11.

So far all diagnosed cases of the syndrome were not inherited, and the result of a sporadic or de novo 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 Wiedemann-Steiner syndrome (WDSTS)?

The main symptoms of the syndrome include developmental delay including delayed speech, hyperactivity and anxiety.

Facial and physical characteristics include a short stature, low muscle tone, wide-set eyes, facial asymmetry, long eyelashes, tapered fingertips, bushy eyebrows, a circular face, thin upper lip and a broad nasal bridge.

Other health conditions may include feeding and gastrointestinal issues, and advanced bone age.

How does someone get tested for Wiedemann-Steiner syndrome (WDSTS)?

The initial testing for Wiedermann-Steiner 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.   

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