Table of ContentsView AllTable of ContentsSymptomsCausesDiagnosisTreatmentPrognosis
Table of ContentsView All
View All
Table of Contents
Symptoms
Causes
Diagnosis
Treatment
Prognosis
Like many medical syndromes, there’s a range of signs and symptoms an individual may have, and the severity may vary from one person to another. For example, although some children may have several characteristic features of BWS, other children may only demonstrate one or two of the hallmark traits.
Verywell / Brianna Gilmartin
Approximately 1 in every 10,500 to 13,700 newborns around the world in diagnosed with Beckwith-Wiedemann syndrome.But this may undercut the true prevalence of BWS, since people who have minor cases of the condition may never be diagnosed.
BWS impacts both males and females in equal numbers.
Beckwith-Wiedemann Syndrome Symptoms
Children with Beckwith-Wiedemann syndrome may be larger than other children their age, but overgrowth tends to abate around age 8; adults with BWS are likely to be of average height.
Symptoms include:
Individuals with BWS usually live a normal lifespan. However, there are two life-threatening symptoms associated with BWS. First, children with BWS are at greater risk of developing malignant tumors, including a rare type ofkidney cancerknown as Wilms tumor, cancer of the muscle tissues, or liver cancer.
Second, infants may develop prolonged low blood sugar, or hypoglycemia, due to the presence of too much insulin.Early detection of the signs and symptoms of BWS is key to helping individuals live a normal lifespan.
BWS is associated with defects in the genes on 11p—the shorter of the two arms of chromosome 11.The syndrome is also called11p overgrowth spectrumbecause of this link and the range of symptoms that can occur.
Some ideas include:
Approximately 10% to 15% of BWS cases are passed down through families.
Since the genetic factors responsible for the development of BWS can be difficult to understand, you may benefit from seeking the services of a geneticist to answer your questions and concerns.
How Genetic Disorders Are Inherited
To diagnose BWS, your physician or healthcare team will look for the distinguishing features of the condition. Often, newborns have noticeable characteristics associated with BWS, which allows the healthcare provider to make a clinical diagnosis based on the identifiable signs and symptoms.
Findings such as abnormalities in the abdominal wall, an abnormal increase in height and weight, and an enlarged tongue are clues suggesting a child may have BWS.
To confirm a diagnosis, however, the practitioner will likely need to look at the patient’s medical history, symptom profile, complete a physical exam, and review any corresponding laboratory results.
Typically, the healthcare provider will recommendgenetic testing, which may also explain the cause of BWS in the child. Additionally, genetic testing can help determine if and how BWS is passed through family members and if there’s a risk of other children inheriting the condition.
In some instances, testing may be performedbeforethe birth of the child. One example of a testing method, which may show early signs of BWS, is an ultrasound done during pregnancy.This method of imaging may show features like enlarged organs, large fetal size, enlarged placenta, and more. Should parents want more detailed information, additional prenatal testing is available.
Generally, the treatment of BWS involves a combination of symptom management, surgical procedures, and remaining vigilant about the possibility of tumor formations. Interventions include:
Infants with BWS are at increased risk for mortality mainly due to complications of prematurity, hypoglycemia, macroglossia, and malignant tumors.The good news is that many children with BWS grow up to have healthy adult lives and a normal lifespan. They can also have healthy children.
Although a child with BWS may have larger features than their peers, their growth rate decreases as they age, as does their risk of developing cancer. During their pre-teen and teenage years, the rate of growth normalizes.
Over time, many of the physical characteristics will become less visible, though there may be some features that require surgical interventions to correct.
A Word From Verywell
Though the outlook for children with BWS is good, as a parent, it’s natural to feel overwhelmed from time to time. Thankfully, there are organizations, such as theBeckwith-Wiedemann Children’s Foundation Internationaland theBeckwith Wiedemann Support Group (UK)to provide resources and advice to people navigating this medical condition.
5 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetic and Rare Diseases Information Center.Beckwith-Wiedemann syndrome.MedlinePlus.Beckwith-Wiedemann syndrome.National Organization for Rare Disorders.Beckwith-Wiedemann syndrome.Nicklaus Children’s Hospital.What is Beckwith-Widermann syndrome?Updated Septmeber 18, 2020.Gazzin A, Carli D, Sirchia F, et al.Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.Am J Med Genet A. 2019 Sep;179(9):1691-1702. doi:10.1002/ajmg.a.61301
5 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Genetic and Rare Diseases Information Center.Beckwith-Wiedemann syndrome.MedlinePlus.Beckwith-Wiedemann syndrome.National Organization for Rare Disorders.Beckwith-Wiedemann syndrome.Nicklaus Children’s Hospital.What is Beckwith-Widermann syndrome?Updated Septmeber 18, 2020.Gazzin A, Carli D, Sirchia F, et al.Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.Am J Med Genet A. 2019 Sep;179(9):1691-1702. doi:10.1002/ajmg.a.61301
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Genetic and Rare Diseases Information Center.Beckwith-Wiedemann syndrome.MedlinePlus.Beckwith-Wiedemann syndrome.National Organization for Rare Disorders.Beckwith-Wiedemann syndrome.Nicklaus Children’s Hospital.What is Beckwith-Widermann syndrome?Updated Septmeber 18, 2020.Gazzin A, Carli D, Sirchia F, et al.Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.Am J Med Genet A. 2019 Sep;179(9):1691-1702. doi:10.1002/ajmg.a.61301
Genetic and Rare Diseases Information Center.Beckwith-Wiedemann syndrome.
MedlinePlus.Beckwith-Wiedemann syndrome.
National Organization for Rare Disorders.Beckwith-Wiedemann syndrome.
Nicklaus Children’s Hospital.What is Beckwith-Widermann syndrome?Updated Septmeber 18, 2020.
Gazzin A, Carli D, Sirchia F, et al.Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome.Am J Med Genet A. 2019 Sep;179(9):1691-1702. doi:10.1002/ajmg.a.61301
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