Xia-Gibbs syndrome

What is Xia-Gibbs syndrome?

It is a rare genetic syndrome associated mainly with intellectual disability.

What gene changes cause Xia-Gibbs syndrome?

Changes in the AHDC1 gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern, although all cases of the syndrome recorded so far have been the result of de novo or new mutations in the gene.

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 Xia-Gibbs syndrome?

The main symptoms of the syndrome include intellectual disability and developmental delay. This delay is more marked in speech development. Autistics traits have also been connected with the syndrome. There is also some evidence of brain defects in affected individuals.
Unique facial features associated with the syndrome include a broad forehead, widely spaced eyes, low set ears that may also be larger than average, a flat nasal bridge and a thin upper lip.
Sleep apnea, issues with breathing when asleep, is also common to the syndrome.
Other symptoms, especially in infancy, include a failure to thrive and low muscle tone.

How does someone get tested for Xia-Gibbs syndrome?

The initial testing for Xia-Gibbs 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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