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You are here: Home / Info / Beckwith-Wiedemann Syndrome – Causes, Pictures, Symptoms, Treatment

Beckwith-Wiedemann Syndrome – Causes, Pictures, Symptoms, Treatment

Last Modified May 26, 2018 By Hana

Beckwith-Wiedemann syndrome is known as a genetic growth disorder that can causes large organs, large body size, and increase weight. The children who are affected with Beckwith Wiedermann syndrome have elongated limbs, increased birth weight, low blood sugar levels and defects in abdominal wall. This condition is known as a congenital condition which means the condition is occurred from birth. This condition makes early stages of development, critical for babies because of the possibilities of

  • Omphalocele (a kind of hernia)
  • Macroglossia (an enlarged tongue)
  • Low blood sugar
  • Increased level of tumor growth such as hepatoblastomas and wilms tumors

Beckwith-Wiedemann syndrome growth rate is slow down during childhood. The children and adults with Beckwith-Wiedemann syndrome are generally behave normal and do not show any medical problems associated with their condition.

Table of Contents

  • Beckwith-Wiedemann Syndrome Causes
  • Symptoms
  • Signs
  • Risk Factors
  • Diagnosis
  • Treatment
  • Prevention
    • Related posts:

Beckwith-Wiedemann Syndrome Causes

The causes of Beckwith-Wiedemann syndrome include

  1. Methylation Defects At Chromosome 11p15 –In this it may add or delete a mark that would result in gene being “turned on’, when it should be “turned off” or makes “off” when it should be “turned on”.
  2. Uniparental Disomy At Chromosome 11p15 – The condition of UPD occurs where both the copies of genes are inherited from only one parent. In this syndrome, both the copies of genes are inherited from father.
  3. Mutation In CDKN1C Gene – It will occur where methylation marks are present.
  4. Chromosomal Abnormalities At 11p15 – It involve duplication (presence of extra genetic material), deletion (genetic material gets missed), inversions (genetic material is rearranged), and translocation (genes present in the wrong place).

Mostly, causes of Beckwith-Wiedemann syndrome are new genetic abnormalities but sometimes it can inherit from a parent.

Symptoms

The entire series of physical features that are associated with Beckwith-Wiedemann syndrome are section of 11p overgrowth spectrum. The 11p overgrowth spectrum is known as overgrowth and genetic changes in the region of 11p causes Beckwith-Wiedemann syndrome. The symptoms of Beckwith-Wiedemann syndrome include

  • Macrosomia (large birth weight and length)
  • Macroglossia (an enlarged tongue)
  • Hemihypertrophy/ hemihyperplasia (overgrowth on the one side or one part of the body)
  • Hypoglycemia (low levels of sugar in blood)
  • Prolonged hypoglycemia due to hyperinsulinism
  • Defects in the abdominal wall such as an omphalocele or umbilical hernia
  • Creases or pits in the earlobe
  • Enlarged abdominal organs, such as liver, kidneys and pancreas
  • Higher risk of developing certain cancer during childhood

The percentage of occurring Beckwith-Wiedemann syndrome is 1 in 11,000 births. The major symptoms of Beckwith-Wiedemann syndrome are macrosomia and macroglossia. These both symptoms are present in the new born at the time of birth. Omphalpcele is an abdominal wall defect that causes inside of the abdomen and may need surgery. The condition is also present at birth. Women having child with Beckwith-Wiedemann syndrome during pregnancy, may have pregnancy complications such as premature delivery and polyhydramnios (secretion of excess amniotic fluid). A large placenta and long umbilical cord is also present in Beckwith-Wiedemann syndrome.

Not all the symptoms are present in every children having Beckwith-Wiedemann syndrome and such children have more chances to get certain types of cancer in adrenal glands. In some children, if the intensity of the illness is mild, only certain parts of the body get enlarged. Very often this disorder is marked by the presence of enlarged ear lobes and the ears tend to be either folded or enlarged in children. What causes this disorder is still not known and scientists believe that genetic abnormalities account for this disease.

Read : Prader Willi Syndrome

Signs

The signs of Beckwith-Wiedemann syndrome include

  • Red birth mark on the forehead or eyelids
  • Large size of the new born
  • Low blood sugar
  • Large tongue
  • Overgrowth of the one side of the body
  • Tumor growth

Risk Factors

The risk factors associated with Beckwith-Wiedemann syndrome include

  • Problems in feeding due to enlarged tongue
  • Problems in breathing due to enlarged tongue
  • Tumor development
  • Scoliosis due to hemihypertrophy
  • Cancer formation such as kidney cancer, liver cancer, neuroblastoma, adrenocortical carcinoma, and rhabdomyosarcoma

Diagnosis

Diagnose of the Beckwith-Wiedemann syndrome can perform by looking the symptoms of the syndrome. The test for Beckwith-Wiedemann syndrome include

  • Blood test to test blood sugar level
  • Ultrasound of the abdomen
  • Chromosomal studies to understand abnormalities in chromosome 11

Diagnosis of the Beckwith-Wiedemann syndrome is possible after taking chromosomal test in addition to routine laboratory test and X ray.

Read : Angelman Syndrome

Treatment

Treatment can be given for controlling and normalizing the blood sugar level in children. Surgery is another option for correcting the abnormal growth in umbilical hernia. Tongue size can be reduced by separate surgery. Apart from surgery, children affected with Beckwith-Wiedemann syndrome are given behavioral therapy and speech therapy for improving their lifestyle. The treatment options for Beckwith-Wiedemann syndrome include

  • Fluids intake for the infants with low blood sugar
  • Repairing of the abdominal wall defects
  • Surgery for enlarged tongue
  • Regular Tumor Screening for cancer
  • An abdominal ultrasound for every three months until the age of 7 years. Abdominal ultrasounds are painless and safe.
  • Measurement of blood alpha-fetoprotein (AFP) concentration-a blood test is performed in every three months to measure serum AFP until the age of 4 years. It is the extreme sensitive way to detect cancers. AFP levels are high during the new born period as hepatoblastoma tumor cells releases it at high levels.

Prevention

Beckwith-Wiedemann syndrome does not have any preventive measures as it is inherited from the affected parent. It is recommended to visit doctor or genetic counselor, if anyone has a family history of the disorder or have child with Beckwith-Wiedemann syndrome to avoid problems in future pregnancies.

Conclusion

Children with Beckwith-Wiedemann syndrome may mature as healthy adults. Gradually, with the growth of children, the physical characteristics of Beckwith-Wiedemann syndrome become less visible. The growth of Beckwith-Wiedemann syndrome is high in childhood but becomes low when children get older. At the stage of adulthood, the growth can normalize and decreases cancer risks.

Adults with Beckwith-Wiedemann syndrome can live a normal and healthy life. They have normal lifespan, normal intelligence and are able to have children.

Related posts:

  1. Apert Syndrome – Causes, Pictures, Symptoms, Treatment
  2. Prader Willi Syndrome – Pictures, Symptoms, Causes, Treatment
  3. Angelman Syndrome – Causes, Pictures, Symptoms, Treatment
  4. Fetal Alcohol Syndrome

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