Beckwith–Wiedemann syndrome

Overview

Board takeaway: Assess macroglossia as an airway finding before sedation; review hypoglycemia before fasting and coordinate tongue surgery with orthodontics.

Macroglossia links airway, feeding, speech, and developing occlusion; the history may include neonatal hypoglycemia and tumor surveillance.

How does Beckwith–Wiedemann syndrome affect dental management?

• Airway: Treat a large tongue as an airway finding: ask about obstructive breathing and difficult airway history
• Tongue reduction: Partial glossectomy (tongue reduction) is planned with the craniofacial team for airway, feeding, speech or occlusion
• Growth and relapse: Coordinate tongue surgery and orthodontics rather than assuming one operation will correct the bite.
• Growth effect: Persistent macroglossia and growth can influence occlusion and relapse
• Before anesthesia: Review hypoglycemia history before fasting for anesthesia; confirm tumor surveillance is current

Exam pearl

What is Beckwith–Wiedemann syndrome?

An overgrowth disorder usually involving altered regulation of imprinted genes on chromosome 11p15, with variable macroglossia, asymmetric growth, and tumor predisposition.

What are the main systemic features of Beckwith–Wiedemann syndrome?

• Frequency and cause: The most common overgrowth syndrome (~1 in 10,000); mostly sporadic epigenetic changes at 11p15
• Recognition: Macroglossia, abdominal wall defects (omphalocele, umbilical hernia), lateralized overgrowth (hemihypertrophy), ear creases or pits
• Metabolic effects: Neonatal hypoglycemia from hyperinsulinism; organomegaly
• Tumor risk: Embryonal tumor risk includes Wilms tumor and hepatoblastoma. Risk varies with the molecular cause; genetics/oncology should specify the surveillance protocol

What oral findings occur in Beckwith–Wiedemann syndrome?

• Tongue: Macroglossia with drooling, tongue protrusion, and feeding, speech and airway problems
• Occlusion: Anterior open bite, flared and spaced anterior teeth, Class III and mandibular prognathism from tongue pressure
• Asymmetry: Hemihypertrophy can make tooth size and eruption asymmetric (larger, earlier teeth on the affected side)

An infant has macroglossia, an umbilical hernia and one leg larger than the other. What is the diagnosis and what is the medical priority?

Beckwith–Wiedemann syndrome. Assess three priorities:

• Airway and feeding: the effect of macroglossia
• Metabolic history: early hypoglycemia
• Tumor surveillance: genetics/oncology referral for Wilms tumor and hepatoblastoma screening.
• CHOP example: As a named example, CHOP uses abdominal ultrasound and serum alpha-fetoprotein (AFP) every three months through the third birthday, then renal ultrasound including the adrenal glands every three months until age seven.
• Individual protocol: Confirm the child’s team protocol; this is supplemental specialist guidance, not an AAPD surveillance schedule

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This is the named CHOP surveillance example, not a universal AAPD schedule. Complete abdominal ultrasound and AFP occur every three months until the third birthday; renal ultrasound including adrenals then continues every three months until age seven. Confirm the individual genetics or oncology protocol.

For Beckwith–Wiedemann syndrome, when is tongue reduction considered, and what happens to the bite after it?

• Indications: A craniofacial team considers tongue reduction when macroglossia compromises breathing, feeding, speech, or dentofacial development.
• Baseline findings: Document sleep, swallowing, speech, and occlusion before deciding.
• Follow-up: Bite changes vary after surgery; continue orthodontic follow-up through growth rather than promising spontaneous correction or inevitable relapse.

Sources

• Supplemental study guide: Pediatric Dental Study Guide: Beckwith-Wiedemann Syndrome
• Management of Dental Patients with Special Health Care Needs
• Management of the Developing Dentition and Occlusion in Pediatric Dentistry
• Pediatric Airway Assessment
• Supplemental genetics: MedlinePlus Genetics: beckwith wiedemann syndrome
• Supplemental clinical source: CHOP: Beckwith-Wiedemann syndrome — cancer screening and follow-up