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Ann C. Smith and Dr. R. Ellen Magenis in 1980
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Who discovered smith-magenis syndrome?
Ann C. Smith and Dr. R. Ellen Magenis in 1980
Did Ann C Smith and Dr R Ellen Magenis have smith-magenis syndrome?
No they were the Doctors the first described the syndrome
How is Smith-Magenis Syndrome acquired?
Smith-Magenis syndrome is usually not an inherited condition. This condition usually results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Often times people with Smith-Magenis syndrome have no history of the condition in their family.
Is smith-magenis syndrome curable?
Smith-Magenis syndrome is a genetic disorder that currently does not have a cure. Treatment focuses on managing symptoms and providing supportive care to improve quality of life for individuals with the syndrome. Research is ongoing to better understand the condition and develop potential therapies in the future.
Is Smith-magenis syndrome dominant?
Yes, Smith-Magenis syndrome is typically caused by a deletion or mutation in the RAI1 gene, which is located on chromosome 17. It is considered an autosomal dominant disorder, meaning that only one copy of the mutated gene inherited from a parent is sufficient to cause the syndrome. However, most cases arise from spontaneous mutations rather than being inherited from affected parents.
Is there treatments or cures for Smith-magenis syndrome?
Currently, there is no cure for Smith-Magenis syndrome (SMS), but various treatments can help manage its symptoms. Interventions may include behavioral therapies, educational support, and medications to address specific issues such as sleep disturbances or behavioral challenges. Early intervention and a multidisciplinary approach can significantly improve the quality of life for individuals with SMS. Regular follow-up with healthcare professionals is essential to tailor treatments to individual needs.
Does Smith-Magenis Syndrome shorten life expectancy?
Smith-Magenis Syndrome (SMS) can be associated with various health complications that may impact life expectancy, but individuals with the condition can have varying outcomes. While some may experience significant health issues, others may lead relatively healthy lives with appropriate medical care and support. It's essential for individuals with SMS to receive comprehensive medical management to address specific health challenges. Overall, life expectancy can differ widely among those affected by the syndrome.
When was R. Ellen Magenis born?
R. Ellen Magenis was born in 1925.
What is the 17Th human chromosome?
The 17th human chromosome is known as chromosome 17. It is one of the 23 pairs of chromosomes in humans and contains around 1,200 genes. Chromosome 17 is associated with various genetic disorders and traits, including Smith-Magenis syndrome and hereditary breast and ovarian cancer.
Was aase syndrome discovered in 1985?
Aase syndrome
Who discovered Wolfram syndrome?
Wolfram syndrome was first discovered by DJ Wolfram who was a US phycisian at the Mayo clinic
Who discovered moebius syndrome?
Paul Moebius, a neurologist who first described the syndrome in 1888.
