Neonatal Giant Baby Syndrome (BWS) Causes Symptoms and Treatment

Many parents discover after birth that their baby is growing extremely fast and has a larger body size than normal, which could be a sign of Giant Baby Syndrome (Beckwith-Wiedemann Syndrome – BWS). This condition is rare but very important, as it affects the child’s growth, abdominal size, and internal organs such as the liver and kidneys, and may lead to potential long-term complications. Daleely Medical explains the causes, symptoms, diagnosis, and treatment of Beckwith-Wiedemann Syndrome, helping parents manage the condition correctly and ensure proper follow-up with specialists for healthy and safe growt

1️⃣ What is Beckwith-Wiedemann Syndrome (BWS)?
Beckwith-Wiedemann Syndrome is a rare condition in which a baby is born with a larger-than-normal body size and weight. Sometimes, it affects internal organs such as the liver and kidneys, requiring close medical monitoring from the first days of life.

2️⃣ What causes Beckwith-Wiedemann Syndrome?
The main cause is a genetic disorder on chromosome 11. In some cases, it is inherited within the family, while in others it appears spontaneously due to new genetic mutations in the child.

3️⃣ What are the symptoms of BWS?

Larger-than-normal body size and weight at birth
Enlarged abdomen or abdominal wall defect
Internal organ abnormalities (liver, kidneys)
Increased risk of childhood tumors

4️⃣ Is BWS dangerous?
Most children improve with proper medical care and early treatment of any complications. Without monitoring and early intervention, serious health problems can occur that may affect the child’s growth and overall health.

5️⃣ How is BWS diagnosed?

Clinical examination: to check the baby’s size and growth compared to normal newborns
Genetic testing: to confirm a disorder in chromosome 11
Imaging of internal organs: to check the liver and kidneys for any abnormalities

6️⃣ Is there treatment for BWS?
Treatment is mostly supportive and involves ongoing monitoring:

Managing complications in internal organs like the liver or kidneys
Surgery for congenital abnormalities in the abdomen or other organs
Monitoring the child’s growth and nutrition to ensure overall health

7️⃣ Is BWS hereditary?
Some cases are inherited, but the majority occur spontaneously due to new genetic mutations in the child.

Types of Beckwith-Wiedemann Syndrome (BWS):

1️⃣ Classic BWS

Shows most of the main features:
- Very rapid growth after birth
- Enlarged tongue (Macroglossia)
- Umbilical or abdominal wall hernia (Omphalocele)
- Enlargement of internal organs (liver, kidneys, spleen)
Usually diagnosed easily after birth

2️⃣ Partial / Atypical BWS

Not all symptoms are present
The child may have only one or two signs, like:
- Enlarged tongue
- Uneven growth between body sides (Hemihyperplasia)
Harder to diagnose, often requires genetic testing or careful monitoring

3️⃣ Molecular / Genetic Variant

Related to changes or mutations in genes on chromosome 11 (11p15 region)
May include:
- Overexpression of some genes
- Loss of activity in other genes
Associated with higher risk of childhood tumors

4️⃣ ART-related BWS

Rare cases show a link with babies conceived via assisted reproductive technologies (ART) like IVF
Thought to be due to epigenetic changes

Causes of BWS:
1️⃣ Genetic & Epigenetic Alterations – Changes in chromosome 11p15 disrupt normal growth regulation, leading to rapid cell growth.
2️⃣ Imprinting Disorders – Imbalance between maternal and paternal gene expression increases growth protein secretion.
3️⃣ Excess growth hormones and insulin – Increased IGF2 protein can cause enlarged liver, kidneys, tongue, and overall body size.
4️⃣ Genetic inheritance – Most cases are spontaneous (sporadic), but a few are passed down from a parent.

Symptoms of BWS:
1️⃣ Growth & body size – Larger weight and height at birth, rapid growth, and hemihyperplasia (uneven growth of body sides)
2️⃣ Face & mouth – Enlarged tongue (Macroglossia) may cause feeding or breathing difficulties; wide jaw or facial features
3️⃣ Abdomen & internal organs – Enlarged abdomen, umbilical or abdominal wall hernia (Omphalocele), enlarged liver or kidneys
4️⃣ Metabolic problems – Low blood sugar (Hypoglycemia) in the first days
5️⃣ Tumors & associated diseases – Increased risk of childhood tumors like Wilms tumor (kidney) or hepatoblastoma (liver)
6️⃣ Additional signs – Unusual skin folds on the ears, visible veins, or prominent birthmarks

Stages of BWS:
1️⃣ Neonatal stage (birth – 1 month)

Very rapid growth (Macrosomia)
Enlarged tongue (Macroglossia) → feeding and breathing difficulties
Umbilical or abdominal wall defect visible
Risk of low blood sugar (Hypoglycemia)

2️⃣ Early Infancy Stage (1 – 12 months)

Continued growth above normal rates.
Enlargement of internal organs becomes visible on imaging.
Uneven growth between the body’s two halves (Hemihyperplasia).
Close monitoring of blood sugar levels and liver/kidney function is essential.

3️⃣ Early Childhood (1 – 4 years)

Higher risk of developing tumors, such as Wilms tumor or liver tumors.
Regular monitoring with imaging and lab tests every 3 months.
Speech or chewing difficulties due to enlarged tongue.
Sometimes surgical intervention may be required to correct hernia or reduce tongue size.

4️⃣ Middle Childhood (4 – 8 years)

Growth rate begins to approach normal.
Tumor risk decreases but still present.
Uneven limb length or asymmetrical growth may require follow-up.
Dental and jaw monitoring is essential due to tongue enlargement.

5️⃣ Late Childhood (8 – 12 years)

Most children approach normal growth.
Tumor risk significantly decreases after age 8.
Remaining issues are usually cosmetic or functional (limb asymmetry or facial shape).
Psychological and social support is important to strengthen the child’s self-confidence.

Complications of Beckwith-Wiedemann Syndrome (BWS)

1️⃣ Breathing and feeding problems

Enlarged tongue (Macroglossia) can cause difficulty with breastfeeding or swallowing.
Sometimes obstructs the airway → sleep problems or sleep apnea.

2️⃣ Metabolic disorders

Low blood sugar (Hypoglycemia) in the first days after birth.
If untreated, it can affect brain development and neurological growth.

3️⃣ Internal organ problems

Enlarged liver or kidneys may cause long-term functional issues.
Increased risk of high blood pressure or kidney problems later in life.

4️⃣ Abdominal and digestive problems

Umbilical or abdominal wall hernia (Omphalocele) may require urgent surgery in some cases.

5️⃣ Increased tumor risk

Children with BWS have a higher risk of childhood tumors, such as:
- Wilms tumor (kidney)
- Liver tumors (Hepatoblastoma)

6️⃣ Growth and asymmetry issues

Uneven growth between body halves (Hemihyperplasia) → affects body shape and movement.

7️⃣ Psychological and social impact

Physical differences (like enlarged tongue or abdomen) may cause anxiety or social difficulties as the child grows.

Risks of BWS
1️⃣ Hypoglycemia (Low blood sugar) – Appears in the first days after birth; delayed treatment may cause seizures or brain development problems.
2️⃣ Breathing issues – Macroglossia can obstruct airflow, especially during sleep.
3️⃣ Abdominal hernia – Umbilical or abdominal wall hernia may require urgent surgery.
4️⃣ Liver and kidney risks – Organ enlargement (Hepatomegaly / Nephromegaly) can impair function or lead to recurrent infections.
5️⃣ Tumor susceptibility – Regular imaging and blood tests are needed to detect:

Wilms tumor (kidney)
Hepatoblastoma (liver)
6️⃣ Uneven growth – Overgrowth in one body part → leg length discrepancy or body asymmetry.
7️⃣ Long-term complications – Risk of high blood pressure and bone or movement problems due to rapid, uneven growth.

Diagnosis of BWS

1️⃣ Clinical Examination

Enlarged size at birth (Macrosomia)
Enlarged tongue (Macroglossia)
Umbilical or abdominal wall hernia (Omphalocele)
Asymmetrical limb growth (Hemihyperplasia)
Skin signs such as birthmarks or ear creases
???? Presence of 3 or more of these signs usually confirms a preliminary diagnosis.

2️⃣ Laboratory Tests

Blood sugar monitoring for hypoglycemia
Liver and kidney function tests
Hormonal tests if growth abnormalities are suspected

3️⃣ Imaging Tests

Abdominal Ultrasound to monitor liver, kidneys, and pancreas
MRI or CT scans if needed
Regular imaging every 3 months during the first 8 years to detect tumors early

4️⃣ Genetic Testing

Chromosome analysis to detect changes in chromosome 11p15
Helps determine if the condition is inherited or due to a new mutation

5️⃣ Differential Diagnosis

Excluding other conditions that cause overgrowth or organ enlargement, such as:
- Sotos syndrome
- Proteus syndrome
- Endocrine tumors or disorders

???? Medical Treatment for BWS

1️⃣ Treating Hypoglycemia

Many affected babies have low blood sugar in the first days.
Treatment:
- Intravenous glucose (IV) to quickly stabilize blood sugar
- Diazoxide may be used in chronic or severe cases to control insulin secretion

2️⃣ Supporting Liver and Kidney Function

Children with enlarged organs may need supportive medication.
Usually supportive care, with ongoing monitoring.

3️⃣ Hormone or Growth Regulation (Rare Cases)

If hormonal imbalance affects growth or tumor risk, doctors may prescribe medication.
Treatment is individualized, not for all children with BWS.

⚠️ Important Notes

Medications do not cure BWS; they manage early complications like low blood sugar.
Comprehensive care includes growth monitoring, surgery if needed, and regular tumor surveillance.
Strict adherence to doctor instructions is essential to avoid complications.

???? Surgical Treatment for BWS

1️⃣ Correcting enlarged abdomen or internal organs

Surgery may be needed if organ enlargement affects function or presses on other organs.

2️⃣ Tumor removal

Children with BWS have higher risk of Wilms tumor or liver tumors.
Surgery may involve:
- Complete tumor removal if detected early
- Partial organ removal if the tumor is large
Often combined with chemotherapy or radiation depending on tumor type

3️⃣ Correcting genital issues

Undescended testes or genital abnormalities may require surgery to improve future function.

4️⃣ Removing skin growths or congenital defects

Surgery improves appearance and prevents infections or functional problems.

⚠️ Important Notes

Surgery is usually optional or for serious complications, not required for all BWS children.
Timing depends on the child’s age, size of the problem, and overall health.
Post-surgery follow-up is essential to ensure no recurrence or new tumors.