Diagnoskriterier Beckwith-Wiedemanns syndrom

Internationella diagnoskriterier för att fastställa diagnosen Beckwith-Wiedemanns syndrom

Clinical features of Beckwith–Wiedemann spectrum

Cardinal features (2 points per feature)

  • Macroglossia
  • Exomphalos
  • Lateralized overgrowth
  • Multifocal and/or bilateral Wilms tumour or nephroblastomatosis
  • Hyperinsulinism (lasting >1 week and requiring escalated treatment)
  • Pathology findings: adrenal cortex cytomegaly, placental mesenchymal dysplasia or pancreatic adenomatosis

Suggestive features (1 point per feature)

  • Birthweight >2 SDS above the mean
  • Facial naevus simplex
  • Polyhydramnios and/or placentomegaly
  • Ear creases and/or pits
  • Transient hypoglycaemia (lasting <1 week)
  • Typical BWSp tumours (neuroblastoma, rhabdomyosarcoma, unilateral Wilms tumour, hepatoblastoma, adrenocortical carcinoma or phaeochromocytoma)
  • Nephromegaly and/or hepatomegaly
  • Umbilical hernia and/or diastasis recti

For a clinical diagnosis of classical Beckwith–Wiedemann syndrome (BWS), a patient requires a score of ≥4 (this clinical diagnosis does not require the molecular confirmation of an 11p15 anomaly). Patients with a score of ≥2 (including those with classical BWS with a score of ≥4) merit genetic testing for investigation and diagnosis of BWS. Patients with a score of <2 do not meet the criteria for genetic testing. Patients with a score of ≥2 with negative genetic testing should be considered for an alternative diagnosis and/or referral to a BWS expert for further evaluation. BWSp, Beckwith–Wiedemann spectrum; SDS, standard deviation scores.

Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB et al. Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: An international consensus statement. Nat Rev Endocrinol 2018; 14: 229-249.