The Smith-Kingsmore syndrome (SKS) is a rare, neurodevelopmental disorder caused by mutations in the MTOR gene. SKS affects the digestive, endocrine, metabolic, and nervous systems. Patients with SKS have a range of medical, intellectual, and behavioral disabilities resulting in different and variable clinical outcomes. Research shows people with SKS have intellectual disability, developmental delay, large brain size (megalencephaly), and seizures. The type of MTOR gene mutation of the patient affects the symptoms.
Smith-Kingsmore syndrome is characterized by unusual facial features. There is currently no cure, treatment is provided according to the present symptoms.
There are three types of genetic changes in MTOR at present:
The first group includes individuals with megalencephaly (brain overgrowth), intellectual disability, autism, and hypotonia.
The second group includes patients with diffuse brain overgrowth, polymicrogyria, and abnormal skin pigmentation.
There is also a third group of patients who suffer from focal changes in the brain (focal cortical dysplasia or hemimegalencephaly) that cause epilepsy at a young age.
The distribution and levels of MTOR genetic changes vary by cell type. SKS can manifest in different ways even if the same MTOR mutation is present.
SKS features vary, but may include:
DIGESTION / GASTROINTESTINAL
SKS is usually said to be an autosomal dominant disorder, meaning that one copy of the altered MTOR gene in each cell is enough to cause the condition.
An affected person is 10 in every 10,000 with MTOR gene disorders.
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