Non-Centromeric 18p Deletion

What is Non-Centromeric 18p Deletion?

18p deletion is a rare genetic syndrome is a deletion syndrome that presents with birth defects, intellectual disability and developmental delay. The severity of the syndromes depends on the size of the deletion. For reasons that are as yet unknown the syndrome tends to affect females more commonly than males.

There are two forms of the syndrome- centromeric and non-centromeric, and the type of deletion affects the type.

What gene changes cause Non-Centromeric 18p Deletion?

Non-Centromeric 18p deletion is caused by a deletion of the short arm of chromosome 18. When this break does not occur at the centromere, Non-Centromeric 18 p deletion syndrome is diagnosed.

What are the main symptoms of Non-Centromeric 18p Deletion?

Symptoms may vary widely between individuals but the main symptoms of the syndrome include a short stature, low muscle tone and learning difficulties. Some individuals also struggle with communication and language development. A susceptibility to tooth decay, and a drooping of the upper eyelids is also common.

Other unique facial features of the syndrome include a flat and broad nasal bridge, a wide mouth, short philtrum and a small chin with low set ears and low hairline.

A small number of affected individuals have holoprosencephaly, which occurs when the two hemispheres of the brain fail to separate during in utero development. The condition is serious and in most cases life threatening.

Recurrent ear infections are a common symptom with subsequent hearing loss also reported.

Other symptoms include chronic constipation, hernias and issues with the spleen.

Affected individuals also seem to be more susceptible to anxiety disorders, as well as communication disorders and conditions related to motor skills delay.

How does someone get tested for Non-Centromeric 18p Deletion?

The initial testing for Non-Centromeric 18p Deletion 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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