Wolf-Hirschhorn syndrome (WHS)

What is Wolf-Hirschhorn syndrome (WHS)?

Wolf-Hirschhorn syndrome is a very rare genetic disorder that presents with very distinct facial characteristics.

Features of this rare disease also include a wide range of health conditions that affect different parts of the body, including delayed physical growth.

As a rare chromosomal deletion syndrome, the severity of symptoms may vary according to the size of the chromosomal deletion.

What gene changes cause Wolf-Hirschhorn syndrome (WHS)?

The syndrome occurs due to a missing piece of the short arm of chromosome 4.

Individuals may present with mild to more severe symptoms of the disorder depending on how much of a piece is missing from the chromosome.

In the vast majority of cases the syndrome is not inherited. 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 Wolf-Hirschhorn syndrome (WHS)?

The main symptoms of the syndrome are delayed development and intellectual disability.

Feeding problems, which become severe and require a feeding tube are also common. Individuals may be affected by gastrointestinal issues and never gain bladder and bowel control.

Many individuals with the syndrome are also affected by heart defects and seizures.

Physical features of the syndrome include prominent, wide-set eyes, a broad or beaked nose, with a "Greek warrior helmet" appearance, prominent glabella, high forehead, small head, arched eyebrows, short upper lip, low-set and malformed ears (micrognathia) and low muscle tone.

How does someone get tested for Wolf-Hirschhorn syndrome (WHS)?

The initial testing for Wolf-Hirschhorn 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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