Beckwith-Wiedemann Syndrome

Syndrome: Beckwith Wiedemann Syndrome
Etiology: Congenital overgrowth disorder that is caused by a sporadic genetic mutation in 85% of cases. Genetics are complex, but chromosome 11 has been implicated as the problem area. BWS remains a clinical diagnosis because physicians cannot identify and test for all the genetic causes of BWS.
Five common features used to define BWS are: macroglossia (large tongue), macrosomia (birth weight and length >90th percentile), midline abdominal wall defects (omphalocele-intestines, liver, other organs remain outside the abdomen in a sac b/c of defect in abdominal wall muscles, umbilical hernia, diastasis recti-separation of rectus abdominis muscles into right/left halves), ear creases or ear pits, and neonatal hypoglycemia (low blood sugar after birth).
Diagnosis: Patients normally don’t present with all 5 features. Child is considered to have the syndrome if it has been diagnosed by a physician and they present with at least 2 of the 5 major features.
Systemic/Medical Conditions: Patients have higher risk of developing cancer, although 80% do not. Most common tumors are Wilms’ tumor (nephroblastoma) and hepatoblastoma. Both can usually be cured if diagnosed early.
Oral Manifestations: Macroglossia (one of the five principal features)
Dental needs/considerations: Macroglossia in BWS becomes less noticeable with age and often requires no treatment; but it does cause problems for some patients. In severe cases, macroglossia can cause respiratory, feeding, and speech difficulties. Children with BWS and significant macroglossia should be evaluated by a craniofacial team. Early orthodontic intervention can halt problems before they progress (open bite, mouth breathing, protrusion of teeth)
The best time to perform surgery for a large tongue is not known. Some surgeons recommend performing the surgery between 3 and 6 months of age. Surgery for macroglossia involves removing a small part of the tongue so that it fits within the mouth to allow for proper jaw and tooth development.