Beckwith-Wiedemann Syndrome (BWS) is a congenital overgrowth disorder which means it is present as birth. It affects approximately one in 15,000 newborns and its most common feature is an overly large tongue, a condition known as macroglossia.
Other indications are a defect of the abdominal wall or an umbilical hernia, increased height and weight at birth or asymmetry in the limbs where one leg or arm is much larger than the other. Some children with this condition may have problems controlling their blood sugar.
In some children, the tongue may protrude from the mouth, either on occasion or all of the time. If the tongue rests inside the mouth, it can cause the lip to protrude or result in increased spacing between the teeth or an overbite. It can also force the lower jaw to grow further than the top jaw.
Children may experience increased drooling or dribbling, feeding difficulties, and macroglossia can impact on speech development. Rarely children with Macroglossia will have breathing difficulties.
Frequently Asked Questions
How is Beckwith-Wiedemann Syndrome (BWS) diagnosed?
Children usually present with one or more of the symptoms of BWS at birth which leads to a clinical diagnosis. It is the result of abnormalities at the chromosome 11p15 and molecular testing in the form of a blood test will then be arranged. For 80 per cent of children with BWS, molecular testing is positive. With a negative test, the clinical features will determine diagnosis and Mr Juling Ong may recommend that some tissue is sent for genetic tests.
Although there are some genetic abnormalities that can cause BWS, most cannot be inherited.
What does treatment for macroglossia entail?
Treatment of macroglossia is carried out by a multi-disciplinary team that includes a specialist speech and language therapist and orthodontist who checks dental development. Facial growth is also monitored as the child matures.
What is the surgical approach for macroglossia?
Many children with functional problems as a result of a large tongue will benefit from surgery. Tongue reduction surgery for macroglossia is performed under a general anaesthetic and typically lasts less than an hour. The size of the tongue is reduced using a keyhole pattern excision and then the wound is closed with dissolvable stitches.
Are there any risks to tongue reduction surgery?
In the first few days after surgery, there will be swelling to the tongue which can make drinking and eating difficult. Infants will not be able to suck from a bottle or breastfeed immediately after the operation so they should be used to feeding from an open cup or a soft-tipped spoon or syringe. The tongue will feel sore and there may be increased saliva in the mouth. Infection and bleeding are rare but can occur.
Your child will usually stay in hospital for up to a week until they are eating and drinking normally and the tongue is recovering well.
During your consultation, Mr Juling Ong will explain all potential risks and discuss your treatment options in full. Please call us on 020 7927 6528 or email us at firstname.lastname@example.org to arrange an appointment.