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A deletion or other structural modification of the terminal end of chromosome 22 in the 22q13 region, or a disease-causing (pathogenic) variation of the SHANK3 gene, causes Phelan-McDermid syndrome (PMS). Phelan-McDermid syndrome does not have a specific treatment. The focus of treatment is on addressing the symptoms while also thoroughly screening for any related diseases. New therapies for this condition are now being tested in clinical studies.
What else can I help you with?
What is the life expectancy of someone with Coffin-Lowry syndrome?
It depends on many factors, and there is a great deal of variability in the syndrome and the health problems associated with it.This report is probably the best compilation on the subject. It is available in the Literature section of http://clsf.info.Coffin-Lowry Syndrome: A 20-Year Follow-Up and Review of Long-Term Outcomes American Journal of Medical Genetics111:345-355 (2002)ChairpersonCoffin-Lowry Syndrome Foundationi think it only matters on the the person and what the person has specifically
Can you catch Robert catchpole syndrome?
Simply no. There is a disease like this but it's real name is Kyle Simpson syndrome. This disease is closely related to those suffering from munteriostasis. If you know someone who has this syndrome it is vital they get checked out at the nearest hospital but don't believe anyone who says Robert Catchpole syndrome exists
What is the average life expectancy of someone with PKU?
With early detection and adherence to a strict low-phenylalanine diet, individuals with PKU can have a normal life expectancy similar to the general population. Without proper management, however, PKU can lead to intellectual disabilities and other health complications that may affect life expectancy. Regular monitoring and diet management are key factors in determining individual outcomes for those with PKU.
How do the cells of people with down syndrom differ from those of others?
People with Down syndrome have an extra copy of chromosome 21 in their cells, leading to 47 chromosomes instead of the usual 46. This genetic condition can result in various physical and cognitive differences, such as distinctive facial features and intellectual disabilities, compared to individuals without Down syndrome.
What gene or chromosome is mutated in tourettes?
The exact genes involved in Tourette syndrome are not fully understood, but it is believed to be a complex disorder with multiple genetic and environmental factors. Variations in several genes, especially those related to brain development and neurotransmitter function, are thought to contribute to the development of Tourette syndrome. There is no single gene or chromosome that is consistently mutated in all individuals with Tourette syndrome.
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.
What is the life expectancy of somebody with marfan syndrome?
Individuals with Marfan syndrome can have a life expectancy that is significantly affected by the condition's complications, particularly those involving the cardiovascular system. With appropriate medical care, including regular monitoring and treatment of heart and blood vessel issues, many people with Marfan syndrome can live into their 50s or beyond. Advances in treatment have improved outcomes, but the prognosis varies widely depending on the severity of the symptoms and the effectiveness of management strategies. Regular follow-ups with healthcare providers are crucial for maintaining health and longevity.
Does marfan syndrome cause death?
Marfan syndrome can lead to serious complications that may result in death, particularly due to cardiovascular issues such as aortic dilation or dissection. While individuals with Marfan syndrome can live relatively normal lives with proper management, early detection and treatment of potential complications are crucial. Advances in medical care have significantly improved life expectancy for those with the condition. Regular monitoring and lifestyle adjustments are important to mitigate risks associated with Marfan syndrome.
What is the life expectancy of someone with Coffin-Lowry syndrome?
It depends on many factors, and there is a great deal of variability in the syndrome and the health problems associated with it.This report is probably the best compilation on the subject. It is available in the Literature section of http://clsf.info.Coffin-Lowry Syndrome: A 20-Year Follow-Up and Review of Long-Term Outcomes American Journal of Medical Genetics111:345-355 (2002)ChairpersonCoffin-Lowry Syndrome Foundationi think it only matters on the the person and what the person has specifically
Can animals get klinefelters or turners syndrome as humans do?
Yes animals do sometimes have Turner's syndrome or Klinefelter's syndrome with similar characteristics as those observed in humans.
What was the life expectancy of a GI in the Vietnam War?
Approximately 3,403,100 US servicemen served in Southeast Asia (2,594,000 of those men served in country); nearly 60,000 didn't make it back. Those are your "life expectancy" figures.
What is the life expectancy in modern time?
Depends where you are. For the most part, life expectancy in the developed world is about 80 years. For those classified as partially developed countries, perhaps 60 years. For those still in the developing world, 40 years.
What is aspi?
Aspie = Person with Aspergers Syndrome. It's friendly slang that those with Aspergers Syndrome use to refer to themselves. People without Aspergers Syndrome are referred to as NTs - Neurotypicals.
How many people in Louisiana have Down syndrome?
Nationally, there are currently approximately 400,000 people with Down syndrome. Unfortunately, though, there is no breakdown on numbers for each state of those with Down syndrome.
Is down sydrome life threatening?
Down syndrome itself is not inherently life-threatening, but individuals with the condition may have an increased risk of certain health issues, such as heart defects, respiratory problems, and gastrointestinal conditions. With appropriate medical care and support, many people with Down syndrome lead healthy, fulfilling lives. Advances in healthcare have significantly improved the life expectancy and quality of life for those with Down syndrome. Early intervention and ongoing support are crucial for optimal development and health outcomes.
What is the male female ratio of those who have Down syndrome?
1 in 10
What is average life expectancy after COPD diagnosis?
The life expectancy of someone diagnosed with COPD at age 50 differs from person to person. It's all dependent on your diet and how well you take care of yourself physically. If you do then you will have a higher life expectancy than those who don't.
