Multidisciplinary macroglossia service for children with Beckwith-Wiedemann syndrome (BWS)

This national service was designated in April 2012 by the NHS Advisory Group for National Specialised Services (AGNSS) and is located at Great Ormond Street Hospital for Children NHS Foundation Trust (GOSH).

The aim of the service is to prevent or resolve the problems associated with macroglossia in BWS in a timely way and to provide best current practice. The problems caused by the macroglossia include: difficulties with feeding and speech, the position of the teeth and lower jaw, increased drooling and altered facial appearance. In some cases respiratory difficulties can occur.

Between 1994 and January 2017, 250 children with BWS macroglossia have been followed longitudinally throughout childhood at GOSH. Outcome data has been systematically collected across a range of dimensions both pre and post tongue reduction surgery as well as for children who have not undergone surgery. 

The GOSH service is therefore embedded in multi-professional evidence based practice. Recommendations are based upon the specialist knowledge of the condition and are consequently specific and time efficient for patients and local professionals. There is no other centre within the UK seeing a large volume of patients with BWS macroglossia and providing long term coordinated care.

Referrals to the service

The child must have a diagnosis of macroglossia associated with BWS. A written referral stating the means of diagnosis of Beckwith-Wiedemann syndrome is required, enclosing a copy of the molecular genetics results. Where molecular confirmation has not been possible (as is currently the case in approximately 20%) the child should fulfill clinical diagnostic criteria for BWS. 

The child must be six months at age of referral so that the macroglossia is stable. Babies below six months of age who have feeding difficulties should be referred to their local children’s speech and language therapy dysphagia service.