Basilicata-Akhtar syndrome

What is Basilicata-Akhtar syndrome?

It is a rare disease which presents with global developmental delay beyond infancy, limited to zero speech, feeding issues and low muscle tone (hypotonia). It affects males and females similarly.

What gene changes cause Basilicata-Akhtar syndrome?

Mutations in the MSL3 gene cause the syndrome.

It is inherited in an X-linked dominant pattern.

What are the main symptoms of Basilicata-Akhtar syndrome?

The main symptoms of the syndrome include global developmental delay, which extends past infancy. This also presents with limited to zero speech, and many affected individuals are able to walk but so so with an unstable gait. Behavioral abnormalities are also common with the syndrome, as is intellectual disability.

Unique facial features of the syndrome include a smooth philtrum, downturned corners of the mouth, deeply set eyes, low-set ears with hearing impairment in some cases, a tented upper lip, a wide nasal ridge and a short neck.

The syndrome may also affect the limbs, with hyper flexibility in the lower limbs, and a short and broad foot in some instances.

Generalized low muscle tone (hypotonia), and progressive spasticity are also symptoms of the syndrome.

How does someone get tested for Basilicata-Akhtar syndrome?

The initial testing for Basilicata-Akhtar 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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