Paula and Bobby
Parents of Lillie
Multiple Synostoses syndrome
What is Multiple Synostoses syndrome?
It is a rare genetic syndrome, also sometimes known as WL syndrome. The syndrome affects mainly the development of the bones. Symptoms usually become apparent during childhood.
What gene changes cause Multiple Synostoses syndrome?
Mutations in the NOG gene are responsible for causing the syndrome. 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 Multiple Synostoses syndrome?
One of the main symptoms of the syndrome is a condition known as proximal or Cushing’s symphalangism of the fingers. This is a condition where the proximal joints of the hands and feet are fused. This in turn leads to straight fingers that can not be bent.
In some individuals this symphalangism or fusing may also affect the hips and vertebrae (spinal column).
Unique facial features of the syndrome include a long face, a broad nose, short philtrum, a thin upper lip and crossed eyes.
Hearing loss is also associated with the syndrome.
How does someone get tested for Multiple Synostoses syndrome?
The initial testing for Multiple Synostoses 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?
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