Paula and Bobby
Parents of Lillie
Larsen syndrome (LRS)
What is Larsen syndrome (LRS)?
Larsen syndrome is a rare genetic condition that affects the development of the bones. It may also be referred to as LRS syndrome.
Symptoms may vary between individuals and even between those in the same family.
The main symptom of the syndrome is dislocations of the hips, knees or elbows. It is currently believed to occur in one in every 100,000 newborns, but it is possible that many cases are misdiagnosed or missed.
What gene changes cause Larsen syndrome (LRS)?
Mutations in the FLNB 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 Larsen syndrome (LRS)?
Clubfeet are a common feature of the syndrome in affected individuals. An X-ray may also show the presence of small extra bones in the wrists and ankles.
Another syndrome is the tips of fingers, usually the thumbs, are blunt and square shaped.
Unique facial features associated with the syndrome are frontal bossing (prominent forehead), wide-set eyes and a flattened bridge of the nose and middle of the face.
Other symptoms involving the affected development of the bones includes a cleft palate, and abnormalities in tiny bones within the ear which can cause hearing loss.
Other physical symptoms of the syndrome include a short stature, and scoliosis.
It is not uncommon for individuals with the syndrome to also experience respiratory problems, and heart and kidney issues.
How does someone get tested for Larsen syndrome (LRS)?
The initial testing for Larsen 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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