Schilbach-Rott syndrome

What is Schilbach-Rott syndrome?

It is a rare genetic syndrome that presents with distinct facial features, including facial asymmetry and widely spaced eyes. The syndrome is also characterized by anomalies relating to a cleft palate. The syndrome affects multiple parts of the body- including the musculoskeletal and nervous systems.

What gene changes cause Schilbach-Rott syndrome?

Changes in the PTCH1 gene are responsible for causing the syndrome.

It is inherited in an autosomal dominant pattern.

What are the main symptoms of Schilbach-Rott syndrome?

The main symptoms of the syndrome affect the facial features of affected individuals. This includes the eyes. Underdeveloped eyelids, and widely spaced eyes, are a common feature of the syndrome.
Other unique facial features of the syndrome include small ears, a small mouth, a long and prominent nose.
A short stature is also common with the syndrome. As is webbing of the fingers and toes.
In some cases mild developmental delay and intellectual disability are also present in affected individuals.

How does someone get tested for Schilbach-Rott syndrome?

The initial testing for Schilbach-Rott 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.

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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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