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.

This syndrome is also known as:
Basilicata-Akhtar syndrome; Intellectual development disorder, X-linked syndromic type 36.

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 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 is Basilicata-Akhtar syndrome diagnosed?

To find out if someone has a diagnosis of Basilicata-Akhtar syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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