What is Lateral Meningocele syndrome?
Lateral Meningocele syndrome is a rare 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.
Syndrome Synonyms:
Lateral menigocele syndrome; Lateral meningocele, osteosclerosis, abnormalities of nervous system/meninges; Lehman Syndrome; Lehman syndrome; LMS
What gene change causes Lateral Meningocele syndrome?
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 that occurs during the reproductive process.
What are the main symptoms of Lateral Meningocele syndrome?
Lateral meningoceles can damage the nerves that extend from the spine to other parts of the body. This may also affect 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 is it diagnosed?
To find out if someone has a diagnosis of Lateral Meningocele syndrome, it is important to have a consultation and evaluation with a clinical genetic specialist. Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis. FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.
