Life Expectancy of Beckwith-Wiedemann Syndrome: Treatment, Causes (2024)

• What Is It?
  • What is Beckwith-Wiedemann syndrome and what risks go with it?
• Symptoms
  • What are the symptoms of Beckwith-Wiedemann syndrome?
• Causes
  • Are you born with Beckwith-Wiedemann syndrome?
  • What causes Beckwith-Wiedemann syndrome?
• Paternal vs. Maternal
  • Is Beckwith-Wiedemann syndrome paternal or maternal?
• Brain Effects
  • Does Beckwith-Wiedemann syndrome affect the brain?
  • Does Beckwith-Wiedemann syndrome cause mental retardation?
• Risk Factors
  • Who is at risk of Beckwith-Wiedemann syndrome?
• Diagnosis
  • How is Beckwith-Wiedemann syndrome diagnosed?
  • Can Beckwith-Wiedemann syndrome be detected before birth?
• • Can Beckwith-Wiedemann syndrome be cured?
  • Do kids grow out of Beckwith-Wiedemann syndrome?
• Prevention
  • Can we prevent Beckwith-Wiedemann syndrome?
• Comments
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• More
  **OTHERTAGLIST**

Beckwith-Wiedemann syndrome is a rare genetic disorder that affects around 1 in every 13,700 newborns.

What is Beckwith-Wiedemann syndrome and what risks go with it?

Beckwith-Wiedemann syndrome (BWS) was first described in the medical literature in 1964 by doctors Jack Beckwith and Heinrich Wiedemann. BWS is a genetic disorder that affects growth and development. It is caused by a change (mutation) in specific genes and is inherited in an autosomal dominant pattern.

BWS is a rare disorder that occurs in about 1 in 11,000 to 15,000 births. It causes overgrowth of the body and various abnormalities. Moreover, it can increase the risk of certain types of cancer.

What are the symptoms of Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder that affects fetal growth and development. Babies with BWS tend to be larger than average at birth and may have various physical abnormalities. BWS affects multiple organ systems in the body.

Common signs and symptoms of BWS may include:

• Macroglossia (enlarged tongue): One of the most characteristic features of BWS and can cause feeding and speaking difficulties.
• Large size at birth: Babies are often born larger than average, with an increased risk of complications during delivery.
• Visible creases on the earlobes: Children with BWS may have creases or pits on their earlobes, which can be an early sign of the condition.
• Prominent abdomen: Children with BWS have an enlarged or protruding abdomen due to ascites (an accumulation of fluid) or an enlarged liver and/or spleen.
• Hypoglycemia (low blood sugar): BWS can cause low blood sugar, leading to seizures and other serious complications. It can cause irritability, tremors, and sweating.
• Abnormalities in the kidney: Children with BWS may have kidney abnormalities, such as nephrocalcinosis (an accumulation of calcium in the kidney) or renal cysts (fluid-filled sacs on the kidneys).
• Abnormalities in the genitals: Children with BWS may have abnormalities in the genitals, such as undescended testicl*s or an enlarged cl*tor*s.
• Increased risk of certain types of cancer: Children with BWS have an increased risk of certain types of cancer, such as Wilms tumor (kidney cancer) and hepatoblastoma (liver cancer).
• Developmental delays: Delays in reaching developmental milestones, such as sitting up, standing, and walking.
• Overgrowth: Babies born with BWS may be larger than average at birth, with larger head sizes and increased weight and length. Additionally, they may continue to grow faster than other children their age.
• Physical abnormalities: Children with BWS have physical abnormalities, such as abnormal folds of skin around the neck, abnormal positioning of the limbs, and a protruding jaw.
• Distinctive facial features: Children with BWS have a round face with full cheeks, protruding jaw, and a large tongue. They may also have a small lower jaw and cleft palate.
• Abdominal wall defects: Include an umbilical hernia or abdominal muscle deficiency.
• Heart defects: Children with BWS may have heart defects, such as a hole in the heart or an abnormal position of the heart within the chest.
• Intellectual disability: Some children with BWS may have intellectual disabilities although this is not always the case.

Are you born with Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder present at birth. It is caused by changes or mutations in certain genes that regulate how cells grow and divide. These changes can result in the overgrowth of certain parts of the body. If you have concerns about whether you or a loved one has BWS, it is important to speak with a medical professional for further evaluation and management.

Is Beckwith-Wiedemann syndrome paternal or maternal?

Beckwith-Wiedemann syndrome (BWS) is a genetic disorder that can be inherited in either a paternal or maternal pattern.

• Paternal pattern
  • If BWS is inherited in a paternal pattern, the genetic mutation that causes the disorder is present on a chromosome that is passed from the father to the child.
  • This type of inheritance is also known as "autosomal dominant" inheritance, which means that a person only needs to inherit one copy of the mutated gene (from either the mother or the father) to develop the disorder.
• Maternal pattern
  • If BWS is inherited in a maternal pattern, the genetic mutation that causes the disorder is present on a chromosome that is passed from the mother to the child.
  • This type of inheritance is known as "imprinted" inheritance, which means that the expression of specific genes is controlled by the parent they are inherited from.
  • In the case of BWS, the mutation is usually located on a chromosome passed from the mother to the child, and it is only expressed if inherited from the mother.

Not all cases of BWS are inherited. Some cases of the disorder occur due to new genetic mutations that occur spontaneously rather than being inherited from a parent.

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What causes Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is caused by changes (mutations) in certain genes or by changes in the way certain genes are expressed.

Potential causes of BWS include:

• Genetic mutations
  • The most common cause of BWS is a genetic mutation that occurs during the early stages of fetal development.
  • The most common cause of BWS is a mutation in the CDKN1C gene. This gene provides instructions for making a protein that helps regulate cell growth and division. A mutation in this gene can lead to the overgrowth of cells and tissues, resulting in the characteristic physical features of BWS.
  • Other genes that have been associated with BWS include KCNQ1OT1, H19, and INS.
• Chromosomal abnormalities
  • BWS can also be caused by chromosomal abnormalities, which are changes in the number or structure of chromosomes.
  • For example, a person with BWS may have an extra copy of chromosome 11 (trisomy 11), or a piece of chromosome 11 may be missing (monosomy 11).
  • These chromosomal abnormalities can affect the expression of specific genes and lead to the features of BWS.
• Epigenetic changes
  • Refer to modifications in the way genes are expressed without altering the underlying DNA sequence. These changes can be caused by environmental factors, such as exposure to certain chemicals or drugs, or by changes in the way cells process and "read" the genetic code.
  • Epigenetic changes have been implicated in the development of BWS, but their precise role is not fully understood.

The causes of BWS are complex and varied, and in many cases, the specific cause is unknown. These cases may be caused by other genetic mutations or abnormalities that have not yet been identified.

Does Beckwith-Wiedemann syndrome affect the brain?

The severity of brain-related complications can vary widely among people with BWS. Some individuals may not have any brain-related difficulties, whereas others may have more severe problems.

Beckwith-Wiedemann syndrome (BWS) can affect many organ systems and the brain in several ways.

Possible brain-related complications of BWS include the following:

• Hydrocephalus
  • There is an excess of cerebrospinal fluid in the brain, causing the brain to swell and increase pressure on the brain tissue. This can lead to headaches, vomiting, and difficulty with balance and coordination.
• Abnormal brain development
  • BWS can cause abnormal brain development, including an enlarged brain and an irregular pattern of brain growth. This can lead to problems with brain function and cognitive development.
• Seizures
  • BWS can increase the risk of sudden seizures and uncontrolled electrical disturbances in the brain that can cause changes in behavior, movements, or sensations.
• Other brain-related complications
  • BWS can be associated with other brain-related complications, such as learning disabilities, developmental delays, and behavioral problems.

Individuals with BWS should receive regular medical evaluation and care to help manage any complications and ensure optimal brain development and function. This may include monitoring for brain-related complications, providing appropriate medical treatment, and assisting with learning and development.

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Does Beckwith-Wiedemann syndrome cause mental retardation?

Beckwith-Wiedemann syndrome (BWS) is characterized by the overgrowth of various parts of the body, including the head, and abnormalities of the internal organs. There is no direct relationship between BWS and mental retardation, but individuals with BWS may be at an increased risk of certain developmental delays or learning disabilities.

BWS can cause various medical complications that can affect brain development, including hypoglycemia (low blood sugar), kidney problems, and abnormalities in the structure of the brain. In addition, some individuals with BWS may have behavioral or emotional problems, which can affect their cognitive development and overall functioning.

The effect of BWS on an individual's cognitive development and functioning can vary widely. Some individuals with BWS may have only mild developmental delays or learning disabilities, whereas others may have more significant challenges. Early diagnosis and treatment of BWS can help optimize a child's development and improve their overall outcomes.

Who is at risk of Beckwith-Wiedemann syndrome?

Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder that affects about 1 in every 13,700 newborns.

Several risk factors may increase a person's likelihood of developing the condition, such as:

• Familial history: People with a family history of BWS have an increased risk of the condition.
• Maternal age: Older mothers are at a high risk of having a child with BWS.
• Maternal obesity: Obese mothers are at a high risk of having a child with BWS.
• Maternal substance abuse: Using tobacco, alcohol, or certain drugs during pregnancy may increase the risk of BWS.
• Maternal diabetes: Women with diabetes, particularly uncontrolled diabetes, are at a high risk of having a child with BWS.
• Assisted reproductive technologies: In vitro fertilization may increase the risk of BWS.
• Maternal infection: Some infections such as cytomegalovirus or rubella may increase the risk of BWS during pregnancy.
• Gender and ethnicity: Anyone can be at risk of BWS, but it is more common in men and people of European ancestry.

The risk of a child being born with BWS increases if one or both parents have a family history of the condition or if the child is born to a mother older than 35 years at the time of the pregnancy.

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How is Beckwith-Wiedemann syndrome diagnosed?

Beckwith-Wiedemann syndrome (BWS) is typically diagnosed in infancy or early childhood.

Several methods can be used to diagnose BWS, including the following:

• Physical examination: A healthcare provider will examine the child for physical signs and symptoms of BWS, such as abdominal wall defects, enlarged organs, and abnormal facial features.
• Genetic testing: BWS is caused by a mutation in certain genes, so genetic testing can be used to confirm the diagnosis. This can be done using a blood or saliva sample and involves analyzing the child's DNA to look for the specific genetic mutation associated with BWS.
• Prenatal testing: If a pregnant woman is at risk of having a child with BWS (due to a family history of the disorder), prenatal testing can be performed to check the fetus for the genetic mutation associated with BWS. This can be done using chorionic villus sampling or amniocentesis.
• Imaging tests: In some cases, imaging tests such as an ultrasound or MRI may be used to help diagnose BWS and assess the extent of any overgrowth or abnormalities.
• Other tests: Depending on the specific symptoms the child experiences, other tests may be performed to help diagnose BWS, such as hormone level tests or tests to check for abnormalities in the chromosomes.

The diagnosis of BWS is typically made based on a combination of these methods rather than just one.

Can Beckwith-Wiedemann syndrome be detected before birth?

Beckwith-Wiedemann syndrome (BWS) can be detected before birth through prenatal testing. Prenatal testing is a type of medical testing done during pregnancy to check the fetus's health and identify any potential problems.

Various types of prenatal testing can be used to detect BWS, such as:

• Ultrasound
  • A noninvasive test that uses high-frequency sound waves to create a detailed image of the fetus. An ultrasound can identify certain physical characteristics associated with BWS, such as an enlarged liver or abdominal wall thickness.
• Chorionic villus sampling (CVS)
  • A small sample of cells is taken from the placenta and tested for genetic abnormalities. CVS can detect BWS as early as the first trimester of pregnancy.
• Amniocentesis
  • A small sample of the amniotic fluid surrounding the fetus is removed and tested for genetic abnormalities. Amniocentesis can be used to detect BWS in the second trimester of pregnancy.
• Noninvasive prenatal testing (NIPT)
  • A blood test can be used to identify genetic abnormalities in the fetus. NIPT can detect BWS as early as the 10th week of pregnancy.

Prenatal testing is optional and is not recommended for all pregnant women. The decision to undergo prenatal testing is personal and should be made after considering the potential risks and benefits and discussing them with a healthcare provider.

Can Beckwith-Wiedemann syndrome be cured?

There is no cure for Beckwith-Wiedemann syndrome (BWS), but treatment can help manage the symptoms and complications of the disorder. BWS is typically treated through medical and surgical approaches.

Treatment for BWS may involve the following:

• Medications
  • Children may be prescribed medicines to help control hormone levels, such as growth hormone or thyroxine.
• Growth hormone therapy
  • Children with BWS often have growth delays and may be prescribed growth hormones to help them reach a normal height.
• Surgery
  • Children with BWS may need surgery to correct certain physical abnormalities, such as macroglossia (a large tongue) or umbilical hernia (an opening in the abdominal wall).
• Blood sugar management
  • People may have a high risk of hypoglycemia (low blood sugar). They may need to follow a special diet or take medications to manage their blood sugar levels.
• Nutrition
  • Children may need to follow a special diet to help ensure proper growth and development. This may include a high-calorie diet or supplements to provide additional nutrients.
• Physical therapy
  • Children may benefit from physical therapy to help improve muscle strength and mobility.
• Other therapies
  • Children may also benefit from other therapies, such as speech therapy or occupational therapy, to help address any developmental delays or other issues.
• Psychosocial support
  • Living with a rare genetic disorder can be emotionally challenging, and people with BWS may benefit from psychosocial support to help them cope with the physical and emotional impacts of the disorder.

People and parents should work closely with a healthcare team, which may include a geneticist, pediatrician, surgeon, and other specialists, to determine the best treatment plan for a child with BWS.

Do kids grow out of Beckwith-Wiedemann syndrome?

In most cases, the physical abnormalities associated with Beckwith-Wiedemann syndrome (BWS) cannot be "grown out of" as they are caused by structural changes in the body that are present from birth. However, some symptoms of BWS, such as hypoglycemia, may improve or resolve over time as the child grows and develops.

Children with BWS may also receive treatment for specific medical problems that arise, such as surgery to repair an omphalocele (abdominal wall defect) or chemotherapy to treat cancer.

Every child with BWS is unique, and the severity of the condition can vary widely from one individual to another. Some children may have few or mild symptoms, whereas others may have more severe health problems.

Can we prevent Beckwith-Wiedemann syndrome?

There is no specific way to prevent Beckwith-Wiedemann syndrome (BWS) from occurring; however, there are a few things that can be done to reduce the risk of BWS in children, which include the following:

• Preconception counseling
  • If a parent is planning to have a child with a family history of BWS or has had a child with BWS in the past, they may consider seeking preconception counseling. This can help them understand the risks and potential options for reducing the risk of having a child with BWS.
• Prenatal testing
  • Amniocentesis or chorionic villus sampling can be used to detect BWS in a developing fetus. If BWS is detected during pregnancy, the parents can work with their healthcare provider to develop a plan for managing the condition.
• Genetic counseling
  • Can help families understand the risks of having a child with BWS and provide them with information about their options.
• Regular medical checkups
  • Children may require regular medical checkups to monitor their growth and development and to ensure that any problems are detected and treated early on.
• Monitoring and management of growth and development
  • Children with BWS may require close monitoring of their growth and development to ensure they reach milestones appropriately. This may include regular checkups with a pediatrician or other healthcare provider.

BWS is a complex and individualized condition, and the best course of prevention and management will depend on the specific circ*mstances of each case.

Image Source: iStock Images

Beckwith-Wiedemann Syndrome: https://emedicine.medscape.com/article/919477-overview

https://www.ncbi.nlm.nih.gov/books/NBK1394/

https://rarediseases.org/rare-diseases/beckwith-wiedemann-syndrome/

https://www.chop.edu/conditions-diseases/beckwith-wiedemann-syndrome

https://www.cancer.net/cancer-types/beckwith-wiedemann-syndrome

https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=116

https://atlasgeneticsoncology.org/cancer-prone-disease/10037/beckwith-wiedemann-syndrome/