Exomphalos–Macroglossia–Gigantism Syndrome

Other names
Types
Causes
Common symptoms and signs
Diagnostic tests
Non-pharmacological treatments (therapies & other supports)
Drug treatments
Dietary molecular supplements
Immunity booster / regenerative / stem-cell” drugs
Surgeries
Preventions
When to see doctors
What to eat” and “what to avoid
Frequently asked questions

Exomphalos–Macroglossia–Gigantism Syndrome is an older name for Beckwith-Wiedemann syndrome (BWS). It is a congenital overgrowth condition. Babies are often large at birth. Many have a large tongue (macroglossia) and abdominal wall defects like omphalocele (exomphalos) or umbilical hernia. Some have lateralized overgrowth (one side of the body grows more than the other). Low blood sugar can happen in newborns. Children with BWS also have a higher risk of certain childhood tumors, especially Wilms tumor and hepatoblastoma. The condition is caused by (epi)genetic changes on chromosome 11p15, which controls growth. Cancer.gov+4NCBI+4Orpha+4

Exomphalos-Macroglossia-Gigantism (EMG) syndrome is the older name for Beckwith-Wiedemann syndrome (BWS), a genetic imprinting disorder that causes babies to grow larger than average before and after birth, often with a belly-wall opening (exomphalos/omphalocele), a large tongue (macroglossia), and sometimes one side of the body larger than the other (lateralized overgrowth). Children with BWS also have a higher risk of certain childhood tumors (especially Wilms tumor of the kidney and hepatoblastoma of the liver), so regular screening is important in early life. The condition varies widely in severity and is usually caused by changes in methylation or structure at chromosome 11p15, affecting growth-control genes such as IGF2 and CDKN1C. Early diagnosis helps with safe feeding, breathing, surgery planning, and tumor surveillance. NCBI+1

Babies may have one or more of the following: omphalocele (abdominal organs protruding into the umbilical cord sac), macroglossia that can interfere with breathing or feeding, birthweight and length above average, ear creases or pits, enlarged abdominal organs (visceromegaly), neonatal low blood sugar (hypoglycemia) from excess insulin, and sometimes asymmetric growth. Because of tumor risk, children typically receive scheduled abdominal ultrasounds and blood tests in the first years of life. NCBI+1

Other names

Beckwith-Wiedemann syndrome (BWS)
Beckwith–Wiedemann spectrum (BWSp) (a modern term that covers mild to classic forms)
Exomphalos–Macroglossia–Gigantism (EMG) syndrome
Wiedemann–Beckwith syndrome (WBS)
All these refer to the same clinical spectrum. Nature+1

Types

Doctors classify BWS by the molecular change found on 11p15. Each subtype can affect features and tumor risk.

IC2 loss of methylation (LIT1/KCNQ1OT1, “IC2 LOM”)
A common subtype. A “silencing tag” (methylation) at IC2 is missing on the maternal copy, which disrupts growth-control genes. Often linked to omphalocele and macroglossia. NCBI+1
IC1 gain of methylation (H19/IGF2, “IC1 GOM”)
Extra methylation at IC1 on the maternal copy increases IGF2 activity, driving overgrowth and raising tumor risk. Frontiers
Paternal uniparental disomy of 11p15 (pUPD11)
Some cells carry two paternal copies of 11p15 and no maternal copy. This mosaic pattern can cause lateralized overgrowth and tumor risk. Orpha+1
Pathogenic variants in CDKN1C
A change in CDKN1C, a growth-suppressor gene, usually inherited from the mother. Often associated with body asymmetry and omphalocele. Orpha+1
Rare ICR1 sequence changes or microdeletions
Small DNA changes near H19/IGF2 control regions can disturb imprinting and cause familial BWS. Nature
No molecular defect detected (clinical BWS)
Some children meet clinical criteria even when current tests are negative. They are still managed as BWSp. NCBI+1

Causes

Because BWS is an imprinting disorder, “cause” mainly means which gene region or imprinting mark is altered and how. Here are 20 well-recognized mechanisms or contributors, each described simply:

Loss of methylation at IC2 (maternal) – Removes a normal “off” signal, so growth-control gets unbalanced. Very common. Frontiers
Gain of methylation at IC1 (maternal) – Adds an abnormal “on” signal, boosting IGF2 (a growth driver). Frontiers
Paternal uniparental disomy of 11p15 (segmental, mosaic) – Two paternal copies in some tissues exaggerate growth signals. Orpha
Pathogenic variants in CDKN1C (maternal allele) – Damages a gene that normally restrains growth. Can be inherited. Orpha
ICR1 sequence changes (e.g., CTCF site changes) – Disrupts control of H19/IGF2, altering growth. Nature
Microdeletions or duplications in 11p15 control regions – Structural changes that mis-set imprinting. BioMed Central
Genome-wide imprinting maintenance defects (rare) – Wider epigenetic instability can include 11p15 errors. NCBI
Mosaicism – Changes exist in some cells but not others, explaining uneven or one-sided growth. NCBI
Abnormal methylation re-programming after fertilization – The normal reset of epigenetic marks goes wrong at 11p15. Frontiers
Assisted reproductive technology (ART) association – Slightly increased frequency of imprinting disorders including BWS has been reported after ART; mechanism likely epigenetic. Nature
Maternal transmission of CDKN1C variants – Classic familial pattern due to imprinting (maternal allele expressed). Orpha
IC2 deletions – Remove regulatory DNA needed for proper methylation and gene control. NCBI
IC1 duplications – Cause excess IGF2 expression and growth. NCBI
Balanced translocations involving 11p15 (rare) – Disrupt imprinting domains or their long-distance contacts. NCBI
Multilocus imprinting disturbance (MLID) – Imprinting errors at several loci including 11p15. NCBI
Epimutations without DNA sequence change – Methylation errors alone can cause BWS features. Frontiers
Regulatory mutations affecting non-coding RNAs (e.g., KCNQ1OT1) – Change expression of growth regulators. PMC
H19 gene regulatory changes – Tilt the balance between IGF2 and H19, favoring growth. MedlinePlus
Environmental effects on imprinting (hypothesis) – Proposed contributors during early embryonic stages; evidence is evolving. Nature
Unknown/undetected mechanisms – Some children have clinical BWS with no current molecular finding. NCBI

Common symptoms and signs

Large body size at birth (macrosomia) – Baby is bigger than average for age. MedlinePlus
Large tongue (macroglossia) – Tongue is big and may stick out; can affect breathing, feeding, and speech later. BioMed Central
Abdominal wall defect (omphalocele/exomphalos or umbilical hernia) – Belly organs may bulge at the navel at birth. Orpha
Low blood sugar in newborn period – From high insulin levels; needs quick treatment. Cancer.gov
Lateralized overgrowth (one side bigger) – One arm/leg or one side of the face grows more. NCBI
Enlarged internal organs (visceromegaly) – Liver, kidneys, pancreas may be large. NCBI
Distinctive ear creases or pits – Small marks at the ear rim. NCBI
Neonatal feeding or breathing trouble – Often due to macroglossia and low tone. BioMed Central
Kidney differences – Such as medullary dysplasia or nephrocalcinosis. NCBI
Birthmarks such as nevus simplex on the forehead/eyelids – Common but not specific. NCBI
Umbilical stump abnormalities – Wide umbilical base or hernia. NCBI
Accelerated growth in early childhood – Height and weight are often high but growth usually slows later. MedlinePlus
Low muscle tone (hypotonia) in infancy – May affect feeding and motor milestones. NCBI
Increased tumor risk – Especially Wilms tumor (kidney) and hepatoblastoma (liver) in early childhood. Cancer.gov
Sleep issues, including obstructive sleep apnea – Due to macroglossia and airway size. BioMed Central

Diagnostic tests

A) Physical examination (bedside clinical assessment)

Newborn physical exam focused on size and symmetry – Measures weight, length, head size, and checks if one side is larger. This helps raise early suspicion for BWS. NCBI
Abdominal wall inspection – Looks for omphalocele or a large umbilical hernia. Immediate surgical input if omphalocele is present. Orpha
Oral exam of the tongue and jaw – Estimates macroglossia and airway space; guides feeding and airway plans. BioMed Central
Ear, skin, and facial feature check – Notes ear creases/pits and subtle signs that support diagnosis. NCBI
Blood sugar monitoring at bedside (point-of-care) – Quick glucose checks in the nursery to detect hypoglycemia. Cancer.gov

B) Manual tests (simple measurements and functional checks done by clinicians)

Anthropometry and growth charting over time – Repeated manual measurements show the growth pattern and asymmetry. NCBI
Airway patency and feeding assessment – Clinician checks breathing sounds, sucking, and swallowing with simple maneuvers. Guides need for tongue reduction or feeding support. BioMed Central
Orthopedic limb-length assessment – Tape or block testing to document side-to-side length differences for future orthotic or surgical planning. NCBI
Abdominal palpation – Gentle exam can detect organ enlargement or masses that prompt imaging. NCBI
Blood pressure measurement – Screens for kidney-related blood pressure changes. Abnormal readings trigger renal work-up. NCBI

C) Lab and pathological tests

Serum glucose and insulin – Confirms hypoglycemia and hyperinsulinism in the newborn, guiding therapy. Cancer.gov
Alpha-fetoprotein (AFP) levels – Monitors for hepatoblastoma risk during early childhood per consensus guidance. Nature
Urinalysis and kidney function tests – Look for kidney issues that can accompany BWS. NCBI
Molecular methylation analysis of 11p15 (IC1/IC2) – Detects IC1 GOM or IC2 LOM; cornerstone test for BWS. Nature+1
UPD testing for 11p15 (e.g., microsatellite or SNP analysis) – Finds paternal uniparental disomy in mosaic cases. Orpha
CDKN1C gene sequencing (maternal allele focus) – Identifies pathogenic variants in familial or isolated cases. Orpha
Targeted tests for small deletions/duplications (MLPA/CNV) – Detects subtle structural changes at 11p15 control regions. NCBI

D) Electrodiagnostic tests

Polysomnography (sleep study) – Measures airflow, oxygen, and breathing effort to confirm obstructive sleep apnea related to macroglossia. BioMed Central
Electrocardiogram (ECG) when indicated – Screens basic heart rhythm if there are symptoms or anesthesia plans for surgery; supportive, not diagnostic for BWS itself. (General practice note.) Nature

E) Imaging tests

Abdominal ultrasound (ongoing tumor surveillance in early childhood) – Screens kidneys and liver for Wilms tumor and hepatoblastoma; also checks organ size and structure. Prenatal ultrasound can detect omphalocele. Nature+1

Non-pharmacological treatments (therapies & other supports)

Important: These are supportive measures. They do not “cure” BWS but help your child breathe, feed, grow, learn, and stay safe while formal medical/surgical care proceeds. Always individualize with your care team.

Structured tumor-surveillance program
Description (≈150 words): A written schedule for ultrasounds (abdomen/renal) and AFP blood tests during the highest-risk years (birth to age 7), with clear instructions on who orders tests, where they’re done, and how results are communicated, reduces missed screens and delays. Families receive a simple calendar, reminder system, and an “action plan” for abnormal results. Coordination with primary care helps keep screening aligned with vaccinations and well-child visits. Purpose: Early detection of Wilms tumor or hepatoblastoma when cure rates are highest. Mechanism: Screening uses imaging and biomarkers to find tumors before symptoms develop, enabling earlier, less intensive treatment. PMC+1
Neonatal hypoglycemia protocol
Description: In the nursery/NICU, staff follow a stepwise feeding and glucose-monitoring plan (early feeds, frequent checks, IV dextrose if needed). A written protocol reduces variability and prevents neurological injury from low glucose. Purpose: Keep blood sugar in a safe range. Mechanism: Frequent intake and intravenous dextrose overcome insulin-driven glucose lowering until hyperinsulinism resolves or medicine is started. NCBI+2Frontiers+2
Feeding and swallowing therapy (SLP-led)
Description: Speech-language pathologists teach techniques (paced feeds, specialized nipples, positioning) and evaluate aspiration risk in macroglossia. Purpose: Safe, adequate nutrition and prevention of aspiration. Mechanism: Optimizes oropharyngeal biomechanics despite tongue bulk. NCBI
Airway positioning & sleep-disordered breathing assessment
Description: Prone/side positioning, elevating the head of bed, and early sleep studies if snoring or pauses are noted. Purpose: Maintain airway patency. Mechanism: Gravity and posture reduce tongue base collapse; sleep studies quantify obstruction for possible CPAP or surgery. NCBI
Occupational therapy (OT) for feeding skills and daily care
Description: OT supports bottle/cup transitions, utensil use, and safe seating to reduce fatigue. Purpose: Functional independence and adequate caloric intake. Mechanism: Task analysis and graded practice build endurance and coordination. NCBI
Physiotherapy for asymmetry and core strength
Description: Targeted exercises address lateralized overgrowth–related posture issues and post-operative recovery after abdominal wall repair. Purpose: Symmetry, balance, and mobility. Mechanism: Progressive motor training strengthens underused muscle groups. NCBI
Early-intervention developmental services
Description: State/region programs provide home-based therapies to meet developmental milestones. Purpose: Optimize cognitive, language, social, and motor outcomes. Mechanism: Neuroplasticity is greatest in the first years; timely stimulation helps. NCBI
Genetic counseling for families
Description: Explains imprinting, recurrence risk, and testing options for siblings/future pregnancies; provides psychosocial support. Purpose: Informed decisions and reduced anxiety. Mechanism: Risk quantification and education tailored to the family’s molecular diagnosis. NCBI
Dental and orthodontic care
Description: Large tongue and jaw changes can affect eruption and alignment; early pediatric dental care plans for hygiene and spacing. Purpose: Prevent caries, trauma, and malocclusion. Mechanism: Habit counseling, fluoridation, and timely orthodontic referral. NCBI
Scar and stoma care after omphalocele repair
Description: Nurses teach wound care, signs of infection, and gentle scar massage once cleared. Purpose: Safe healing and better function/cosmesis. Mechanism: Standard post-operative protocols reduce complications. NCBI
Speech therapy after tongue reduction (if performed)
Description: Targets articulation and resonance once tissues heal. Purpose: Clear speech and confidence. Mechanism: Motor planning drills adapt to changed oral space. NCBI
Nutritional planning for hypoglycemia risk
Description: Frequent, balanced meals; bedtime carbohydrate; overnight strategies when advised. Purpose: Fewer glucose dips. Mechanism: Steady glucose absorption counters hyperinsulinism variability. Frontiers
Written emergency plan for hypoglycemia
Description: Caregivers learn symptoms, home monitoring, and when to seek urgent care. Purpose: Rapid response to low glucose. Mechanism: Early recognition prevents seizures/brain injury. OUP Academic
Psychosocial support & peer connections
Description: Social work referral, parent groups, and school advocacy reduce stress and isolation. Purpose: Family resilience. Mechanism: Social support improves adherence and coping. NCBI
School health plan (504/IEP where applicable)
Description: Documents tumor-screen schedule, feeding accommodations, and activity guidance. Purpose: Safe inclusion. Mechanism: Standardized supports across caregivers. NCBI
Safe anesthesia planning
Description: Macroglossia can complicate intubation; anesthesia team prepares airway strategies. Purpose: Safer surgeries. Mechanism: Anticipatory airway management reduces peri-operative risk. NCBI
Sun and skin care over surgical sites
Description: SPF and physical barriers protect new scars. Purpose: Better scar quality. Mechanism: UV avoidance reduces hyperpigmentation/hypertrophy. NCBI
Regular renal and liver function checks as indicated
Description: Align labs with tumor screening or chemotherapy follow-up if ever needed. Purpose: Early detection of complications. Mechanism: Lab monitoring supports timely interventions. Cancer.gov+1
Care coordination hub
Description: A single point of contact (nurse coordinator) tracks appointments, imaging, and labs. Purpose: Fewer missed steps. Mechanism: Centralized reminders and record-keeping. PMC
Lifestyle activity guidance
Description: Age-appropriate activity is encouraged; avoid abdominal trauma soon after repair; individualized sports advice. Purpose: Healthy growth and participation. Mechanism: Balancing safety with normal activity supports development. NCBI

Drug treatments

Important: There is no disease-specific “curative” medicine for EMG/BWS. Medicines target complications—most commonly hyperinsulinemic hypoglycemia, and, if a tumor occurs, standard pediatric oncology regimens. Below are core drugs your team may consider. Label citations from accessdata.fda.gov are included when applicable; oncologic combinations follow current NCI PDQ summaries.

Diazoxide (PROGLYCEM®)
Class: KATP channel opener (hyperinsulinism therapy).
Dosage/Time: Neonates/children: individualized, commonly 5–15 mg/kg/day in divided doses (specialist-led).
Purpose: Reduce pancreatic insulin release to raise blood sugar.
Mechanism: Keeps KATP channels open → hyperpolarizes β-cells → suppresses insulin secretion.
Side effects: Fluid retention, hypertrichosis, GI upset, potential pulmonary hypertension—often co-managed with a thiazide diuretic. Evidence: FDA label indicates use for hyperinsulinism in infants/children; widely used in BWS-related hypoglycemia. Frontiers+3FDA Access Data+3FDA Access Data+3
Octreotide (SANDOSTATIN®; short-acting and LAR)
Class: Somatostatin analog.
Dosage/Time: SC injections (short-acting) titrated by response; LAR monthly IM in selected children resistant or intolerant to diazoxide (specialist care).
Purpose: Suppress insulin secretion when diazoxide is inadequate or contraindicated.
Mechanism: Binds somatostatin receptors on β-cells → inhibits insulin release.
Side effects: GI symptoms, gallstones/sludge over time, potential thyroid function effects—monitor. Evidence: FDA label describes strong inhibition of insulin; pediatric case series support use in BWS hyperinsulinism, including LAR formulations. PMC+3FDA Access Data+3FDA Access Data+3
Glucagon (emergency use)
Class: Hyperglycemic hormone.
Dosage/Time: Emergent IM/SC dosing per pediatric protocols for severe hypoglycemia when IV access is delayed.
Purpose: Rapidly raise blood glucose.
Mechanism: Stimulates hepatic glycogenolysis and gluconeogenesis.
Side effects: Nausea/vomiting; caution if glycogen stores are depleted. Evidence: Standard pediatric hypoglycemia care; used as a bridge to IV dextrose. (Use product label per brand available; consult local formulary.) OUP Academic
Intravenous dextrose (e.g., D10W infusion)
Class: Glucose replacement.
Dosage/Time: Continuous infusion titrated to maintain euglycemia in NICU.
Purpose/Mechanism: Directly supplies glucose to offset insulin-mediated hypoglycemia.
Side effects: IV complications; requires close monitoring. Evidence: Standard of care in neonatal hyperinsulinism, including BWS. OUP Academic
Hydrochlorothiazide (adjunct to diazoxide)
Class: Thiazide diuretic.
Dosage/Time: Low dose; specialist guided.
Purpose: Counteract diazoxide-induced fluid retention; potential mild hyperglycemic effect.
Mechanism: Diuresis; may reduce edema and improve tolerance.
Side effects: Electrolyte changes; photosensitivity. Evidence: Common adjunct per hyperinsulinism practice; consult pediatric endocrinology. Frontiers
Nifedipine (selective cases)
Class: Calcium-channel blocker.
Dosage/Time: Rare, off-label; variable response.
Purpose: Alternative or add-on when diazoxide/octreotide unsuitable.
Mechanism: Reduces calcium-dependent insulin exocytosis.
Side effects: Hypotension, flushing, edema. Evidence: Limited data; specialist use only. Frontiers
Chemotherapy for Wilms tumor—Vincristine
Class: Vinca alkaloid.
Role: Backbone agent in many Wilms regimens.
Purpose/Mechanism: Antimitotic (microtubule inhibitor) to kill dividing tumor cells.
Side effects: Neuropathy, constipation—pediatric oncology monitoring essential. Evidence: NCI PDQ and consensus regimens list vincristine as standard. Cancer.gov+2MDPI+2
Chemotherapy—Dactinomycin (Actinomycin D)
Class: Antitumor antibiotic.
Purpose/Mechanism: Intercalates DNA; inhibits RNA synthesis.
Side effects: Myelosuppression, mucositis. Evidence: Standard agent in Wilms protocols. Cancer.gov+1
Chemotherapy—Doxorubicin
Class: Anthracycline.
Purpose/Mechanism: DNA intercalation; topoisomerase II inhibition; free-radical formation.
Side effects: Cardiotoxicity risk; cumulative dose limits. Evidence: Used for intermediate/high-risk Wilms tumor. Cancer.gov
Chemotherapy for hepatoblastoma—Cisplatin
Class: Platinum compound.
Purpose/Mechanism: DNA crosslinking cytotoxic agent.
Side effects: Nephrotoxicity, ototoxicity—monitoring required. Evidence: Core to hepatoblastoma regimens; PDQ and clinical trials support its central role. Cancer.gov+1
5-Fluorouracil (5-FU) (with cisplatin/vincristine in some protocols)
Class: Antimetabolite.
Purpose/Mechanism: Thymidylate synthase inhibition → impaired DNA synthesis.
Side effects: Mucositis, myelosuppression. Evidence: Part of selected hepatoblastoma combinations. Medscape
Vincristine (in hepatoblastoma regimens)
As above—used in certain combos. Medscape
Cyclophosphamide (selected Wilms intensification)
Class: Alkylating agent.
Purpose/Mechanism: DNA crosslinking cytotoxic therapy for higher-risk disease.
Side effects: Myelosuppression, hemorrhagic cystitis (MESNA when indicated). Evidence: Used in intensified protocols. American Cancer Society+1
Etoposide (selected intensification)
Class: Topoisomerase II inhibitor.
Purpose/Mechanism: Induces DNA breaks in rapidly dividing cells.
Side effects: Myelosuppression; secondary leukemia risk (rare). Evidence: Used in higher-risk Wilms regimens. American Cancer Society
Carboplatin (alternative/platinum class)
Class: Platinum analog.
Purpose/Mechanism: DNA crosslinking; used when cisplatin unsuitable or per protocol.
Side effects: Myelosuppression; less nephro/ototoxicity than cisplatin. Evidence: Selected protocols and salvage settings. Austin Publishing Group
Ifosfamide (selected intensification)
Class: Alkylating agent.
Side effects: Neurotoxicity risk; MESNA for uroprotection. Evidence: Utilized in aggressive or relapsed Wilms tumor per protocol. Austin Publishing Group
Supportive antiemetics during chemotherapy (e.g., ondansetron)
Class: 5-HT3 antagonist.
Purpose/Mechanism: Blocks serotonin receptors in the chemoreceptor trigger zone.
Side effects: Constipation, headache; QT prolongation risk. Evidence: Standard supportive care in pediatric oncology. Cancer.gov
Growth and thyroid monitoring (no routine GH/thyroid drugs unless deficient)
Rationale: BWS involves growth regulation, but hormone replacement is not standard unless proven deficiency exists; monitor rather than treat empirically. Evidence: GeneReviews emphasizes individualized management, not routine endocrine drug therapy. NCBI
Antibiotic prophylaxis peri-operatively (procedure-specific)
Rationale: For omphalocele repair or tongue surgery per surgical protocols to reduce infection risk. Evidence: Standard pediatric surgical practice; individualized. NCBI
Analgesia plans after surgery
Rationale: Multimodal pain control tailored to airway and feeding needs; avoids oversedation that could worsen airway obstruction in macroglossia. Evidence: Standard peri-operative care principles. NCBI

Note on FDA label sourcing: For hyperinsulinism in BWS, diazoxide and octreotide are the key labeled/label-supported agents referenced above from accessdata.fda.gov; chemotherapy agents are used per NCI PDQ pediatric oncology protocols and institutionally approved regimens rather than BWS-specific FDA indications. Cancer.gov+3FDA Access Data+3FDA Access Data+3

Dietary molecular supplements

Important: No supplement treats the genetic cause of BWS. The items below are supportive and must be individualized by a pediatric clinician/dietitian—especially if your child has hypoglycemia, post-surgical needs, or is on chemotherapy.

Complex carbohydrate bedtime snack
Long description (≈150 words): A slow-release carbohydrate snack at bedtime (e.g., whole-grain cereal with milk or pediatric formula additions) can reduce overnight glucose dips in infants/children at risk. Dietitians adjust portion and timing to avoid excessive calories. Dose: Age-appropriate portion; guided by glucose monitoring plan. Function/Mechanism: Provides sustained glucose absorption to buffer insulin-related lows. Frontiers
Age-appropriate protein with each meal
Description: Including protein (e.g., dairy, legumes) with carbs slows gastric emptying and stabilizes post-prandial glucose. Dose: Per pediatric guidelines. Mechanism: Protein/fat modulate glycemic response. Frontiers
Vitamin D
Description: Supports bone health during rapid growth and after limited outdoor activity during recovery phases. Dose: As per pediatric recommendations and serum levels. Mechanism: Calcium/phosphate homeostasis for bone mineralization. (General pediatric evidence basis; not BWS-specific.) NCBI
Iron (if deficient)
Description: Treats iron-deficiency anemia that can occur with rapid growth or poor intake. Dose: Per weight and labs. Mechanism: Restores hemoglobin and supports neurodevelopment. (Use only if lab-confirmed.) NCBI
Omega-3 fatty acids (nutrition support during oncology care when applicable)
Description: May help maintain caloric density and support general health during treatment. Dose: Pediatric dietitian guided. Mechanism: Calorie-dense fats; anti-inflammatory properties. (Adjunctive; not curative.) Cancer.gov
Folate-rich foods or supplement if deficient
Description: Supports hematopoiesis during recovery or if chemotherapy impacts appetite. Dose/Mechanism: Cofactor in DNA synthesis; only if needed based on labs/diet. Cancer.gov
Zinc (if low)
Description: Supports wound healing after abdominal or tongue surgery. Dose: Per pediatric reference intake and labs. Mechanism: Enzyme cofactor for tissue repair. NCBI
Probiotic foods (e.g., yogurt) if tolerated
Description: May support GI comfort during stressful care periods. Mechanism: Microbiome support; individualized in immunocompromised states. Cancer.gov
Electrolyte solutions during illness
Description: Help maintain hydration during febrile illness or peri-chemotherapy nausea. Mechanism: Replace fluids/electrolytes to maintain perfusion and glucose delivery. Cancer.gov
Calorie-dense oral supplements (pediatric formulas) if growth faltering
Description: Temporary bridge to meet energy needs; supervised by dietitian. Mechanism: Ensures adequate macro-/micronutrients while feeding skills improve. NCBI

Immunity booster / regenerative / stem-cell” drugs

There are no approved “immunity boosters,” regenerative, or stem-cell drugs to treat the underlying genetics of BWS. Any use of growth factors or cell-based therapies is not standard and should only occur in a research setting. Below are six conceptual categories sometimes discussed and why they are not routine care:

Hematopoietic growth factors (e.g., G-CSF)—used only for chemotherapy-induced neutropenia per oncology protocols; not to treat BWS itself. Dose/Mechanism: Stimulates neutrophil production; oncology-guided. Cancer.gov
Erythropoiesis-stimulating agents—reserved for selected chemo-related anemia with strict criteria. Mechanism: Stimulates red cell production. Cancer.gov
IVIG—not indicated for BWS; used for specific immune deficiencies/autoimmunity. Mechanism: Immune modulation via pooled antibodies. Cancer.gov
Probiotic “immune boosters”—food-based; safety must be weighed in immunocompromised patients; not disease-modifying. Mechanism: Microbiome effects. Cancer.gov
Experimental stem-cell therapies—no evidence or indication for BWS; avoid outside clinical trials. Mechanism: Investigational; risks unknown. NCBI
Antioxidant cocktails—no proof they improve outcomes in BWS; may interact with chemo. Mechanism: Theoretical free-radical scavenging; not recommended without oncology approval. Cancer.gov

Surgeries

Omphalocele (exomphalos) repair
Procedure: Return organs to the abdomen and close the defect; staged approaches for large sacs.
Why: Protect organs, reduce infection risk, and allow normal abdominal function. NCBI
Tongue-reduction (partial glossectomy)
Procedure: Reduces tongue bulk to improve airway, feeding, and dental development; timing individualized.
Why: Prevent airway obstruction and feeding difficulty; support speech and jaw growth. NCBI
Hernia repairs (umbilical/inguinal) & abdominal wall revisions
Procedure: Standard pediatric surgery techniques as needed.
Why: Prevent incarceration and improve comfort/cosmesis. NCBI
Tumor surgery (if Wilms/hepatoblastoma occurs)
Procedure: Nephrectomy (kidney removal) or liver tumor resection; sometimes transplant for unresectable hepatoblastoma.
Why: Curative intent with or without chemotherapy. Cancer.gov+1
Orthognathic/craniofacial procedures (selected cases)
Procedure: Correct jaw alignment or severe macroglossia-related dysmorphology later in childhood.
Why: Function (speech, chewing) and occlusion/cosmesis. NCBI

Preventions

Adhere to the tumor-screening schedule—early detection saves lives. PMC+1
Newborn glucose monitoring—prevents neurologic injury. OUP Academic
Safe sleep/airway positioning—reduce obstruction risk in macroglossia. NCBI
Vaccinations on time—protect against infections during surgeries or treatment. NCBI
Wound/hand hygiene—lower post-operative infection risk. NCBI
Dental hygiene and early dental visits—prevent caries in altered oral anatomy. NCBI
Nutrition plans for stable glucose—steady intake reduces hypoglycemia episodes. Frontiers
Medication safety checks—pharmacist review for drug interactions during oncology care. Cancer.gov
Sun protection over scars—better cosmetic outcomes. NCBI
Care-coordination reminders—fewer missed imaging/labs. PMC

When to see doctors

Immediately for signs of severe hypoglycemia (lethargy, jitteriness, seizures), breathing difficulty, or a new abdominal mass. Early evaluation leads to safer, faster treatment. OUP Academic+1
Promptly for poor feeding, failure to gain weight, persistent vomiting, or sleep-disordered breathing (snoring, pauses). These can be managed with feeding therapy, ENT evaluation, or sleep studies. NCBI
Routinely for scheduled ultrasounds/AFP and well-child checks to keep surveillance on track. Medscape

What to eat” and “what to avoid

Eat (as advised by your team):

Frequent, balanced meals with complex carbs and protein to smooth glucose levels. Frontiers
Dairy, legumes, eggs, or other proteins matched to age and tolerance. Frontiers
Fruits/vegetables and whole grains for fiber, micronutrients, and steady energy. NCBI
Calorie-dense pediatric formulas if growth falters (dietitian-guided). NCBI
Adequate fluids and ORS during illness to maintain hydration and glucose delivery. Cancer.gov

Avoid/limit (as advised):

Long fasting intervals (especially overnight) without a plan. Frontiers
Very high-sugar spikes without protein/fat pairing (may worsen post-prandial swings). Frontiers
Choking hazards or textures not cleared by the feeding team in macroglossia. NCBI
Unsupervised “immune boosters” or antioxidant megadoses, especially during chemo. Cancer.gov
Supplements not reviewed with your clinician/pharmacist. Cancer.gov

Frequently asked questions

1) Is EMG the same as Beckwith-Wiedemann syndrome?
Yes. EMG is the older name based on three signs (exomphalos, macroglossia, gigantism). The modern name is BWS. NCBI+1

2) Is BWS inherited?
Most cases are not inherited in the usual way; they are due to methylation or structural changes on chromosome 11p15 that happen early in development. A genetic counselor can review recurrence risk. NCBI

3) Why is tumor screening needed?
Children with BWS have a higher risk of Wilms tumor and hepatoblastoma in early childhood. Screening finds tumors earlier when treatment works best. PMC+1

4) How long does screening last?
Many programs check every 3 months with abdominal ultrasound and AFP until age 4, then renal ultrasound every 3 months from 4–7 years. Your team will tailor this. Medscape

5) What is neonatal hypoglycemia in BWS?
Some babies make too much insulin, lowering blood sugar. Early feeding, IV glucose, and sometimes medicines like diazoxide or octreotide help. OUP Academic+2FDA Access Data+2

6) Does tongue size always need surgery?
No. If breathing, feeding, and dental development are okay, many children do not need surgery. If obstructive symptoms persist, reduction is considered. NCBI

7) Will my child have normal development?
Most children do well with early support (feeding therapy, OT/PT, speech). Regular developmental checks catch needs early. NCBI

8) What cancers are most common?
Wilms tumor (kidney) and hepatoblastoma (liver) are the main ones in early childhood; risk varies by molecular subtype. CHOP Research Institute

9) What happens if a tumor is found?
Pediatric oncology uses proven protocols—surgery plus chemotherapy such as vincristine/dactinomycin/doxorubicin for Wilms and cisplatin-based regimens for hepatoblastoma. Cancer.gov+1

10) Are there medicines that fix the gene problem?
No. Medicines treat complications like hypoglycemia; the genetic imprinting change itself is not yet reversible in routine care. NCBI

11) Can diet cure BWS?
No. Diet helps stabilize glucose and support growth but does not change the genetic cause. Frontiers

12) Is pregnancy management different next time?
A genetic counselor and maternal-fetal medicine specialist can review risks, prenatal testing options, and delivery planning. NCBI

13) Will my child need special anesthesia planning?
Yes—macroglossia can complicate airway management. Always tell the anesthesia team about BWS before any procedure. NCBI

14) How do we keep track of all appointments?
Ask for a nurse coordinator and a written schedule for ultrasounds/AFP; use reminders. PMC

15) Where can I read more?
Authoritative resources include GeneReviews and NCI PDQ pages for Wilms tumor and childhood liver cancer. NCBI+2Cancer.gov+2

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