Beckwith-Wiedemann syndrome (BWS) is a rare genetic disorder characterized by macrosomia, macroglossia, abdominal wall defects, neonatal hypoglycemia, ear creases/pits, and an increased risk of childhood tumors. BWS is diagnosed based on clinical features and molecular testing. Management includes monitoring for complications like hypoglycemia, surgical treatment for issues like abdominal hernias, and screening for cancer risk. Children with BWS require lifelong follow-up from specialists.

1. Beckwith-Wiedemann syndrome
Suman 2000
 Originally described by Dr. Hans-Rudolf Wiedemann as exomphalos (midline
abdominal wall defects)-macroglossia-gigantism (EMG) syndrome
 Then Prof. John Bruce Beckwith added the, ear creases/ear pits, neonatal
hypoglycaemia
Prevalence
 Incidence of one in 13,700
 1:4000 in IVF children
 (>85%) cases of BWS are sporadic
 (<15%) cases of BWS are familial due to defective chromosome number 11.
What are the signs and symptoms of BWS?
1. Major findings associated with BWS
• Macrosomia (traditionally defined as weight and length/height >97th centile)
• Macroglossia
• Hemihyperplasia (asymmetric overgrowth of one or more regions of the body)
• Visceromegaly involving one or more intra-abdominal organs including liver, spleen,
kidneys, adrenal glands, and/or pancreas
• Cytomegaly of the fetal adrenal cortex (pathognomonic)
• Cardiomyopathy (rare in BWS)
• Umbilical hernia

2. • Embryonal tumor (e.g., Wilms tumor, hepatoblastoma, neuroblastoma,
rhabdomyosarcoma) in childhood
• Renal abnormalities including structural abnormalities, nephromegaly,
nephrocalcinosis, and/or later development of medullary sponge kidney
• Anterior linear ear lobe creases and/or posterior helical ear pits
• Cleft palate (rare in BWS)
• Positive family history (≥1 family members with a clinical diagnosis of BWS or a
history or features suggestive of BWS)
2. Minor findings associated with BWS
• Neonatal hypoglycemia
• Birth mark or port wine mark
• Characteristic facies including midface retrusion and infraorbital creases

3. How is BWS diagnosed?
The condition is diagnosed by a combination of assessment of clinical features
and molecular testing.
Management
 Antenatal diagnosis Prenatal diagnosis by ultrasound scan can be used to assess fetal
growth and to detect abdominal wall defects, thereby helping to prevent neonatal
complications.
 Oral and craniofacial management of difficulties arising from macroglossia:
1. Anticipation of difficulties with endotracheal intubation [Kimura et al 2008]
2. Assessment of respiratory function, possibly including sleep study to address concern
regarding potential sleep apnea
3. Management of feeding difficulties using specialized nipples such as the longer nipple
recommended for babies with cleft palate or, rarely, short-term use of nasogastric tube
feedings
4. Follow up by a craniofacial team including plastic surgeons, orthodontists, and speech
pathologists familiar with the natural history of BWS. Tongue growth does slow over
time and jaw growth can accelerate to accommodate the enlarged tongue. Some
children benefit from tongue reduction surgery; however, surgical reduction typically
affects tongue length but not thickness; residual cosmetic and speech issues may require
further assessment/treatment [Tomlinson et al 2007].
5. Orthodontic intervention as needed in later childhood/adolescence
6. Assessment of speech difficulties
7. Management of cleft palate following standard protocols
8. Referral to a craniofacial surgeon if facial hemihyperplasia is significant
 Abdominal wall defects (Hernia) are common in newborns with BWS and may
require surgical treatment.
 Neonatal hypoglycemia, Most of these hypoglycemic newborns are asymptomatic and
have a normal blood glucose level within days. However, untreated persistent hypoglycemia
can lead to permanent brain damage. Hypoglycemia in newborns with BWS should be
managed according to standard protocols for treating neonatal hypoglycemia. Usually this

4. hypoglycemia can easily be treated with more frequent feedings or medical doses of glucose.
Rarely (<5%) children with BWS will continue to have hypoglycemia after the neonatal
period and require more intensive treatment. Such children may require tube feedings, oral
hyperglycemic medicines, or a partial pancreatectomy.
 Nevus flammeus (port-wine stain) is a flat, red birthmark caused by a capillary (small
blood vessel) malformation. Children with BWS often have nevus flammeus on their
forehead or the back of their neck. Nevus flammeus is benign and commonly does not
require any treatment.
 Hemihypertrophy (hemihyperplasia) is an abnormal asymmetry between the left and
right sides of the body occurring when one part of the body grows faster than normal.
Children with BWS and hemihypertrophy can have an isolated asymmetry of one body part,
or they can have a difference affecting the entire one side of the body. Individuals who do
not have BWS can also have hemihypertrophy. Isolated hemihypertrophy is associated with
a higher risk for cancer.The types of cancer and age of the cancers are similar to children
with BWS. As a result, children with hemihypertrophy should follow the general cancer
screening protocol for BWS. Hemihypertrophy can also cause various orthopedic problems,
so children with significant limb hemihyperplasia should be evaluated and followed by an
orthopedic surgeon. Hemihyperplasia affecting the face can sometimes cause significant
cosmetic concerns that may be addressed by a cranial facial team.