Synonyms

• EMG Syndrome
• exomphalos-macroglossia-gigantism

Category

Syndrome

Behaviour

Benign

Gender

Both equally

Epidemiology

• Autosomal dominant genetic disorder (imprinting disorder)
• Incidence 1 in 13,700 live births
• 50% familial, 50% sporadic
• Increased risk of childhood malignancies (1-5%)
• Beckwith-Wiedemann region (11p15) imprinting dysregulation

Clinical Features

• Macroglossia (enlarged tongue)
• Exomphalos/omphalocele
• Gigantism/overgrowth
• Facial nevus flammeus
• Hemihypertrophy
• Ear abnormalities (creases, pits)
• Hypoglycaemia in neonatal period

Location

• Generalized overgrowth affecting all body parts
• Tongue, abdominal wall, kidneys, adrenal glands
• Wilms tumour (kidney)
• Hepatoblastoma
• Rhabdomyosarcoma

Imaging

• Prenatal ultrasound: macrosomia, exomphalos
• MRI: assess tongue size and airway
• Abdominal imaging: screen for Wilms tumour
• Baseline and periodic screening imaging

Pathology

• Not applicable to Syndrome itself
• Histology if associated tumours present

Genetics

• 11p15 imprinting defects: loss of methylation on IC2, gain on IC1
• CDKN1C mutations in some familial cases
• H19 and IGF2 dysregulation
• Genomic imprinting disorder

Treatment

• Multidisciplinary management
• Tongue reduction if macroglossia severe
• Surgical repair of exomphalos
• Management of hypoglycaemia
• Surveillance for tumours

Prognosis

• Good survival with appropriate management
• Depends on associated complications
• Tumour risk Highest age 0-5 years

Key Points

• SYSTEMIC GENETIC Syndrome
• Increased malignancy risk requires surveillance
• Macroglossia and exomphalos characteristic
• Imprinting disorder on 11p15

Workup - Blood Tests

• Glucose monitoring (neonatal)
• FBC, U&E (baseline)
• No specific diagnostic blood test

Workup - Local Imaging

• Prenatal ultrasound if familial history
• Abdominal ultrasound: screen for Wilms, hepatoblastoma
• Baseline imaging before age 5 years

Workup - Biopsy

Not applicable to Syndrome diagnosis

Workup - Staging

Abdominal ultrasound: screen for Wilms, hepatoblastoma

Workup - Other

• Genetics consultation mandatory
• Paediatric surgery consultation
• ENT for macroglossia assessment
• Oncology surveillance protocol

Follow-up Summary

• Regular abdominal imaging every 3 months until age 5 years (Wilms/hepatoblastoma screening)
• Genetic counselling for family
• Monitor for other malignancies beyond age 5 years
• Feeding and speech assessment