Paula and Bobby
Parents of Lillie
Saethre-Chotzen syndrome (SCS)
What is Saethre-Chotzen syndrome (SCS)?
Saethre-Chotzen is a rare disease (craniosynostosis) which causes the premature fusing of the bones in the skull.
This premature fusion in turn affects the shape of the head and face. It does not, however, affect brain development and intellectual ability.
What gene changes cause Saethre-Chotzen syndrome (SCS)?
The syndrome is inherited and the result of mutations to the TWIST 1 gene. It is inherited in an autosomal dominant pattern.
In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
What are the main symptoms of Saethre-Chotzen syndrome (SCS)?
Physical features of the syndrome include finger and toe webbing, small and unusually shaped ears, a short stature, abnormalities of bones in the spine, curving of the pinky finger, short fingers and toes and a flat head.
Unique facial features of the syndrome include a high forehead, asymmetry of the face, a beaked nose, wide-set eyes and a depressed bridge of the nose.
How does someone get tested for Saethre-Chotzen syndrome (SCS)?
The initial testing for Saethre-Chotzen 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.
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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