Kleefstra syndrome

What is Kleefstra syndrome?

Kleefstra syndrome is a genetic condition that exhibits a wide range of symptoms that may affect multiple areas and systems of the body.

The more common symptoms include intellectual disability, low muscle tone, seizures and characteristic facial features.

This rare disease was officially identified as Kleefstra syndrome in April 2010, making it a recently identified syndrome.

What gene changes cause Kleefstra syndrome?

Deletions from the EHMT1 gene on chromosome 9 are responsible for the development of the syndrome.

The disease is not inherited but the result of de novo deletions. 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 Kleefstra syndrome?

The main symptoms, which may vary in their severity between individuals, include developmental delay and intellectual disability. Delayed or no speech is characteristic of the syndrome.

Individuals are often born with a high birth weight and obesity in childhood. In adolescence the syndrome may trigger apathy and or catatonia.
The syndrome may also cause developmental disorders similar to those associated with Autism, as well as other behavioral issues.

Physical conditions of the syndrome include dental abnormalities, low muscle tone, strabismus or squint in the eyes and hearing loss. The hands of individuals with the syndrome may have a single palm crease, in-curving fingers. Incurving feet are also not uncommon.

Other health conditions associated with the syndrome include kidney issues, and connective tissue disorders. Respiratory infections are common, as are seizures and possible brain abnormalities.

How does someone get tested for Kleefstra syndrome?

The initial testing for Kleefstra 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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