Beckwith Wiedemann Syndrome

Chromosome 11p problem, where IGF2 gene lies. Hemihypertrophy, macroglossia, ear creases/pits, exomphalos, umbilical hernia, visceromegaly, macrosomy, hyperinsulinism.

Focal disease is associated with uniparental disomy in chromosome 11 (“upd(11)pat”), whereas diffuse disease can be familial or sporadic.

Focal disease can be managed by limited surgery, whereas diffuse disease needs near total pancreatectomy for any benefit. DOPA-PET scans can differentiate focal disease with a sensitivity of 88-94%, and are 100% accurate in localizing the focal lesion (Aberdeen does).

At increased risk of tumours esp nephroblastoma, adrenal carcinoma, hepatoblastoma. Screening recommendations depend on mutation viz IC2 LOM, IC1 GOM, upd(11)pat etc. For all but the first, every 3 months until age 7yrs.

OMIM link.

Support group