ZTTK syndrome

What is ZTTK syndrome?

It is a rare disease which presents with intellectual disability and developmental delay. Symptoms also include brain or cerebral anomalies, issues with vision, musculoskeletal abnormalities and either birth defects.

What gene changes cause ZTTK syndrome?

The syndrome is caused by mutations in the SON gene.
It is inherited in an autosomal dominant pattern.

What are the main symptoms of ZTTK syndrome?

The main symptoms of the syndrome include intrauterine growth retardation (a failure to grow properly pre birth) and failure to thrive, and grow during infancy.
Underdevelopment of a part of the brain known as the corpus callosum is common. As is severe intellectual disability. Developmental regression also occurs with the syndrome, which means affected individuals actually go backwards with their developmental milestones.
Unique facial features of the syndrome include whites of the eyes that are a bluish-grey colour, deep-set eye/s, a depressed nasal bridge, facial asymmetry, eye folds, and prominent ears.
Other physical features of the syndrome include absent thumbs, as well as long and slender fingers.
Possible medical conditions associated with the syndrome include atrial septal defect (a congenital heart condition), deafness, and loss of vision that is often progressive.

How does someone get tested for ZTTK syndrome?

The initial testing for ZTTK 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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