Paula and Bobby
Parents of Lillie
Lateral Meningocele syndrome (LMNS)
What is Lateral Meningocele syndrome (LMNS)?
This rare disease is a genetic condition that affects multiple parts of the body including the bones, muscles, nervous system and other systems in the body.
The syndrome is identified by the presence of lateral meningoceles which are when the membranes that surround the spinal cord protrude through gaps in the bones of the spine. These are more likely to be found in the lower part of the spine where they are often bigger also.
There are only a few cases of the syndrome reported worldwide to date.
What gene changes cause Lateral Meningocele syndrome (LMNS)?
Mutations in the NOTCH3 gene are responsible for causing the syndrome. It is inherited in an autosomal dominant pattern but most cases are the result of a de novo or new mutation in the gene.
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.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation which occurs during the reproductive process.
What are the main symptoms of Lateral Meningocele syndrome (LMNS)?
The presence of lateral meningoceles causes damage to the nerves that originate from the spine to the rest of the body.
This may also cause damage to the nerves responsible for bladder control.
Damage to the nervous system may also cause a tingling sensation in the legs, a weakness or stiffness in the legs and related back pain.
Delayed motor development in infancy is also a common symptom.
Unique facial features associated with the syndrome include highly arched eyebrows, wide-spaced eyes, droopy eyelids and corners of the eyes that point downwards. A thin upper lip, long philtrum, low set ears, small jaw, coarse hair and a flattened facial appearance are also facial features of the syndrome.
How does someone get tested for Lateral Meningocele syndrome (LMNS)?
The initial testing for Lateral Meningocele 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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