Mental Retardation, Autosomal Dominant 32

What is Mental Retardation, Autosomal Dominant 32 syndrome?

Also known as Arboleda-Tham syndrome it is a rare genetic disorder which presents with intellectual disability, speech delay, a small head (microcephaly) and both issues with the heart and gastrointestinal system.

What gene changes cause Mental Retardation, Autosomal Dominant 32 syndrome?

Mutations to the KAT6A gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern.

What are the main symptoms of Mental Retardation, Autosomal Dominant 32 syndrome?

The main symptom of the syndrome is intellectual disability, including psychomotor delay. Speech delay is also common with the syndrome and in some cases may be limited to zero speech development.

Unique facial features of the syndrome include a small head (microcephaly), a prominent nasal bridge, crossed eyes and epicanthal folds (skin covering the inner part of the eyelid).

Cardiac and heart issues are also common with the syndrome. These include congenital heart septal defects.

Some individuals may also experience gastrointestinal issues and conditions.

How does someone get tested for Mental Retardation, Autosomal Dominant 32 syndrome?

The initial testing for Mental Retardation, Autosomal Dominant 32 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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What is FDNA Telehealth?

FDNA Telehealth is a leading digital health company that provides faster access to accurate genetic analysis.

With a hospital technology recommended by leading geneticists, our unique platform connects patients with genetic experts to answer their most pressing questions and clarify any concerns they may have about their symptoms.

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