Weksberg et al listed major and minor criteria for identifying a patient with Beckwith-Wiedermann Syndrome (BWS). The authors are from the Hospital for Sick Children, University of Toronto, Loma Linda University and Orphanet.


Major criteria:

(1) cleft palate

(2) hemihyperplasia

(3) renal medullary dysplasia, medullary sponge kidney or other renal abnormality

(4) anterior ear lobe creases and/or posterior helical pits (unilateral or bilateral)

(5) macroglossia

(6) omphalocele, umbilical hernia or other abdominal wall defect

(7) macrosomia (height and weight > 97th percentile for population)

(8) embryonal tumor in childhood

(9) family history positive for BWS

(10) visceromegaly involving liver, kidneys, spleen, pancreas and/or adrenal glands


An additional major criterion that would not be available clinically is histologic cytomegaly of the adrenal fetal cortex which is usually bilateral and diffuse.


Minor criteria:

(1) advanced bone age for age

(2) diastasis recti

(3) facial appearance

(4) cardiac defect (cardiomegaly, cardiomyopathy, structural cardiac anomaly)

(5) nevus flammeus

(6) neonatal hypoglycemia

(7) polyhydramnios, enlarged placenta, thickened umbilical cord, and/or premature labor and delivery


A patient is typically said to have BWS if he or she show:

(1) 3 or more major criteria

(2) 2 major criteria and 1 minor finding

However, there is wide variation in the BWS phenotype and the diagnosis can be made with few phenotypic findings if there is good molecular evidence.


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