Some people can do regular, paid work. In , researchers investigating the neurological features of WS speculated that the special structures of neurons in people with WS may lead to the super-social aspect of the condition. The authors concluded that studies into WS could help scientists understand what it is that makes humans social beings. Marfan syndrome is a genetic condition that affects connective tissues.
People with Marfan syndrome tend to be tall with unusually long limbs…. Noonan Syndrome is a genetic condition that is associated with congenital heart disease, bleeding problems, short stature, and unusual facial features.
Cushing's syndrome happens when there is too much of the hormone cortisol. Its complex effects include the weight gain, malignancies and a range of…. From feeling like a zombie to having a hand that tries to choke you, we take a look at five of the strangest and rarest medical conditions to exist. Williams syndrome: What you need to know. Medically reviewed by Alana Biggers, M. Features Causes and diagnosis Treatment Outlook Williams syndrome is a rare neurodevelopmental genetic disorder that features mild learning or developmental challenges, a high levels of calcium in the blood and urine, and a markedly outgoing personality.
Share on Pinterest People with Williams syndrome tend to have good social and communication skills. Share on Pinterest Many people with WS love music and have a keen sense of hearing. Causes and diagnosis. Share on Pinterest Physical therapy can help some people with Williams syndrome.
Latest news Could 'cupping' technique boost vaccine delivery? Scientists identify new cause of vascular injury in type 2 diabetes. Adolescent depression: Could school screening help? Related Coverage.
What you need to know about Marfan syndrome. Medically reviewed by Nancy Carteron, M. What's to know about Noonan syndrome? What is Cushing's syndrome? People with Williams syndrome should avoid taking extra calcium and vitamin D. This is because blood levels of these substances are already high. Medical conditions can affect the lifespan of those with Williams syndrome.
Calcium deposits can cause kidney problems, and narrowed blood vessels can cause heart failure. The majority of affected people have some degree of intellectual disability. Learning self-help skills and getting early intervention in school can help encourage independence. Some people with Williams syndrome will need to live with a caregiver or in a supervised home.
There is no known way to prevent Williams syndrome. People with a family history of the condition can choose to undergo genetic counseling before conceiving a child. Talk to your doctor about whether this is right for you.
Ask what your chances are of having a child with the condition. A new study shows abnormal immune proteins in the spinal fluid of people with chronic fatigue syndrome. One woman went years misdiagnosed until she was finally diagnosed with chronic fatigue….
New research suggests a common biomarker for inflammation is present for years in people with chronic fatigue syndrome. Caudal regression syndrome, or sacral agenesis, is a rare condition where the lower spine doesn't fully form before birth. Here's what you should know.
Mermaid syndrome is a severe and often fatal congenital abnormality involving fused limbs, which have been described as resembling a mermaid's tail. According to an observational study in , couples, there was a 35 percent increase in the chance of birth defects in newborns if the father…. Krabbe disease is a rare and life threatening disorder of the nervous system. Sturge-Weber syndrome is a rare neurological disorder present at birth.
Learn about its symptoms, causes, diagnosis, and treatment. Alkaptonuria is a rare genetic disorder that causes homogentisic acid to build up in your body. Most people with Williams syndrome share a wide range of physical, social and cognitive thinking and acquiring knowledge traits. These characteristic features may occur to a greater or lesser degree. Some common physical traits of Williams syndrome include:.
Williams syndrome is caused by a partial deletion of up to 28 genes on chromosome 7. This means that a section of genetic material on chromosome 7 is missing. It is believed that some of these genes are involved in the production of elastin.
Elastin is a protein that provides elasticity and suppleness to various structures, including skin and blood vessel walls. This lack of elastin is most likely the cause of some of the distinctive physical features of Williams syndrome. Most cases of Williams syndrome are caused by random events that occur during the formation of the egg or the sperm in an unaffected individual.
Williams syndrome can also, rarely, be inherited from a parent who has the condition. In the rare event the condition is inherited, it is inherited in an autosomal dominant manner. This means that just one copy of the altered chromosome 7 is enough to cause the condition. Due to this inheritance pattern, an individual with Williams syndrome has a 50 per cent chance of passing the condition onto any future children.
Williams syndrome often goes undiagnosed. This means many people fail to get the support and treatment they need until later in life. Diagnostic tests include:. There is currently no cure for Williams syndrome. Treatment aims to support the person and manage associated symptoms. There may be many physical, developmental, intellectual and social problems present in Williams syndrome, which may require a team of health professionals. Treatment options can include:.
If you or a family member have been diagnosed with a Williams syndrome, or if it runs in your family, it can be helpful to speak to a genetic counsellor. Genetic counsellors are health professionals qualified in both counselling and genetics. Genetic counsellors are trained provide information and support that is sensitive to your family circumstances, culture and beliefs.
If Williams syndrome runs in your family, a genetic counsellor can explain what genetic testing options are available to you and other family members. You may choose to visit a genetic counsellor if you are planning a family, to find out your risk of passing the condition on to your child, or to arrange for prenatal tests. The Genetic Support Network of Victoria GSNV is connected with a wide range of support groups throughout Victoria and Australia and can connect you with other individuals and families affected by Williams syndrome.
0コメント