Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type

What is Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type?

It is a rare genetic syndrome marked by intellectual disability and developmental delay. The symptoms progress from mild developmental delay to more severe intellectual disability. The syndrome also leads to muscle and bone anomalies. The syndrome affects males only and currently affects only around 10 families worldwide.

What gene changes cause Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type?

Changes in the SMS gene are responsible for causing the syndrome.

The syndrome is inherited in an X-linked recessive pattern, and this mode of inheritance makes it present in males almost exclusively.

What are the main symptoms of Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type?

The main symptoms of the syndrome include intellectual disability and delayed development which get progressively worse with age. This delay includes speech and language development with speech difficulties. In some individuals this means the lack of any speech at all.

Low and thin muscle mass is common with the syndrome. As is a thin and long body with low muscle tone. Muscle tone continues to be lost with age. This in turn can create issues with walking and the development of an unsteady gait. A short stature is also a common physical feature of the syndrome.
Skeletal issues are also common with the syndrome. These include a thinning of the bones (osteoporosis) leading to brittle bones that break easily even without significant trauma or impact. Kyphoscoliosis- a curving of the spine is also common.
Unique facial features of the syndrome include a prominent lower lip, narrow roof of the mouth, cleft palate and facial asymmetry.

How does someone get tested for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type?

The initial testing for Mental Retardation, X-Linked, Syndromic, Snyder-Robinson Type 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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