My Baby Was Diagnosed with Beckwith-Wiedemann Syndrome
Medically reviewed by Dr. Michael Okonkwo, MD, FAAP · Board-Certified Neonatologist
Content reviewed against published NIH, NORD, NIH guidelines
Last reviewed:
If your baby has been diagnosed with or you suspect was diagnosed with beckwith-wiedemann syndrome, here is what the evidence says.
The short answer
Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder affecting approximately 1 in 10,500 births. It is caused by changes in gene regulation on chromosome 11p15. Common features include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects (omphalocele or umbilical hernia), ear creases or pits, and neonatal hypoglycemia. The most important medical consideration is an increased risk of certain childhood cancers (particularly Wilms tumor and hepatoblastoma), which requires regular screening through early childhood. With appropriate monitoring, the prognosis for children with BWS is generally very good.
Key takeaways
- Beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder affecting approximately 1 in 10,500 births. It is caused by changes in gene regulation on chromosome 11p15. Common features include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects (omphalocele or umbilical hernia), ear creases or pits, and neonatal hypoglycemia. The most important medical consideration is an increased risk of certain childhood cancers (particularly Wilms tumor and hepatoblastoma), which requires regular screening through early childhood. With appropriate monitoring, the prognosis for children with BWS is generally very good.
- Usually normal when: Your baby has BWS and is receiving regular cancer screening on schedule
- Call your doctor if: Your newborn is jittery, trembling, pale, or excessively sleepy — this may indicate low blood sugar and needs immediate evaluation
- Varies by age — see the age-by-age breakdown below
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What Parents Should Know
According to NIH, NORD guidelines, beckwith-Wiedemann syndrome (BWS) is an overgrowth disorder affecting approximately 1 in 10,500 births. It is caused by changes in gene regulation on chromosome 11p15. Common features include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects (omphalocele or umbilical hernia), ear creases or pits, and neonatal hypoglycemia. The most important medical consideration is an increased risk of certain childhood cancers (particularly Wilms tumor and hepatoblastoma), which requires regular screening through early childhood. With appropriate monitoring, the prognosis for children with BWS is generally very good. At 0-1 month, in the newborn period, the primary concerns are neonatal hypoglycemia (low blood sugar) and the management of any abdominal wall defects. Hypoglycemia can be severe and requires close monitoring and sometimes IV glucose. A large tongue may cause feeding difficulties and, in rare cases, airway issues. Your neonatal team will stabilize these issues. Genetic testing (methylation analysis of chromosome 11p15) confirms the diagnosis and helps determine the specific molecular subtype, which guides cancer screening recommendations. It is generally considered normal when your baby has BWS and is receiving regular cancer screening on schedule. However, you should contact your pediatrician promptly if your newborn is jittery, trembling, pale, or excessively sleepy — this may indicate low blood sugar and needs immediate evaluation.
Normal vs. Concerning
When to Seek Immediate Care
- Your newborn is jittery, trembling, pale, or excessively sleepy — this may indicate low blood sugar and needs immediate evaluation
- You feel a firm mass in your child's abdomen — seek urgent medical evaluation
- Your baby has difficulty breathing related to the large tongue — seek emergency care
By Age
What to expect by age
0-1 month
In the newborn period, the primary concerns are neonatal hypoglycemia (low blood sugar) and the management of any abdominal wall defects. Hypoglycemia can be severe and requires close monitoring and sometimes IV glucose. A large tongue may cause feeding difficulties and, in rare cases, airway issues. Your neonatal team will stabilize these issues. Genetic testing (methylation analysis of chromosome 11p15) confirms the diagnosis and helps determine the specific molecular subtype, which guides cancer screening recommendations.
1-6 months
Once acute neonatal issues are managed, cancer screening begins. This typically includes abdominal ultrasound every 3 months and alpha-fetoprotein (AFP) blood tests to screen for hepatoblastoma and Wilms tumor. Feeding may require support if the tongue is large. Some babies need special positioning or feeding strategies. The large tongue often becomes proportionally smaller as the child grows.
6 months - 4 years
Cancer screening continues with abdominal ultrasounds every 3 months until around age 4 (for hepatoblastoma) and then every 3-4 months until age 7 (for Wilms tumor). This screening schedule is evidence-based and catches tumors at early, treatable stages. Growth may be accelerated in early childhood but typically normalizes. If the tongue is causing significant feeding, speech, or airway issues, tongue reduction surgery may be discussed.
4 years+
The risk of hepatoblastoma decreases significantly after age 4, and the risk of Wilms tumor decreases after age 7-8. After the screening period, most children with BWS have no ongoing medical issues beyond normal pediatric care. Growth typically normalizes. Some children may have leg length discrepancy or hemihyperplasia (one side larger than the other) that may benefit from orthopedic monitoring.
What to Tell Your Pediatrician
- Describe when you first noticed was diagnosed with beckwith-wiedemann syndrome and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if you feel a lump or mass in your baby's abdomen — report this even if the next screening is not due yet.
- Mention if your baby is having difficulty feeding because of the large tongue.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
What Should You Do?
When to take action
- Your baby has BWS and is receiving regular cancer screening on schedule
- Your baby's blood sugar has stabilized and they are feeding and growing well
- Your child is growing rapidly but screening tests remain normal
- You feel a lump or mass in your baby's abdomen — report this even if the next screening is not due yet
- Your baby is having difficulty feeding because of the large tongue
- You notice one limb or side of the body seems significantly larger than the other
- You have questions about your child's genetic testing results or recurrence risk for future pregnancies
- Your newborn is jittery, trembling, pale, or excessively sleepy — this may indicate low blood sugar and needs immediate evaluation
- You feel a firm mass in your child's abdomen — seek urgent medical evaluation
- Your baby has difficulty breathing related to the large tongue — seek emergency care
What You Can Do at Home
- Keep track of when you notice was diagnosed with beckwith-wiedemann syndrome — noting the time of day, duration, and any triggers can help your pediatrician.
- Remember that your baby has BWS and is receiving regular cancer screening on schedule — this is generally within the range of normal.
- At 0-1 month, focus on observation rather than intervention unless your pediatrician advises otherwise.
- Follow any care instructions from your pediatrician. Keep a written log of symptoms to bring to appointments.
- While monitoring at home, seek immediate care if your newborn is jittery, trembling, pale, or excessively sleepy — this may indicate low blood sugar and needs immediate evaluation.
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My Baby Was Diagnosed with VACTERL Association
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Frequently asked questions
Is was diagnosed with beckwith-wiedemann syndrome normal?
When should I call the doctor about was diagnosed with beckwith-wiedemann syndrome?
When is was diagnosed with beckwith-wiedemann syndrome normal?
What causes was diagnosed with beckwith-wiedemann syndrome?
What should I mention to my pediatrician about was diagnosed with beckwith-wiedemann syndrome?
Is was diagnosed with beckwith-wiedemann syndrome normal at 0-1 month?
Is was diagnosed with beckwith-wiedemann syndrome normal at 1-6 months?
Should I go to the ER for was diagnosed with beckwith-wiedemann syndrome?
Does was diagnosed with beckwith-wiedemann syndrome go away on its own?
References
Doctor Visit Checklist
Bring this checklist to your next pediatrician visit to discuss My Baby Was Diagnosed with Beckwith-Wiedemann Syndrome.
Things to mention
- Describe when you first noticed was diagnosed with beckwith-wiedemann syndrome and how it has changed over time.
- Note your baby's current age and which age-specific patterns you are seeing.
- Mention if you feel a lump or mass in your baby's abdomen — report this even if the next screening is not due yet.
- Mention if your baby is having difficulty feeding because of the large tongue.
- Let your doctor know if you have noticed any related concerns, such as changes in feeding, sleep, or movement patterns.
- Bring a list of any questions or observations you want to discuss at the appointment.
Observations to share
- You feel a lump or mass in your baby's abdomen — report this even if the next screening is not due yet
- Your baby is having difficulty feeding because of the large tongue
- You notice one limb or side of the body seems significantly larger than the other
Urgent signs to report immediately
- Your newborn is jittery, trembling, pale, or excessively sleepy — this may indicate low blood sugar and needs immediate evaluation
- You feel a firm mass in your child's abdomen — seek urgent medical evaluation
- Your baby has difficulty breathing related to the large tongue — seek emergency care
My notes
From ismybabyalright.com — free, evidence-based baby health guides
All content follows our editorial policy and is reviewed against published clinical guidelines.
2,705 evidence-based guides6 authoritative medical sources5 medical advisory board members
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Bottom line
Most cases of was diagnosed with beckwith-wiedemann syndrome are normal. Talk to your pediatrician if your newborn is jittery, trembling, pale, or excessively sleepy — this may indicate low blood sugar and needs immediate evaluation.
Trust your instincts. If something feels wrong, reach out to your pediatrician. Worrying about your baby means you care — that is a good thing.
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