Factsheet
Condition:
Beckwith-Wiedemann syndrome
Inheritance:
Autosomal dominant/sporadic
Genetic Etiology:
Abnormalities involving an imprinted region of chromosome 11p15. Abnormalities include: paternal isodisomy for 11p15; cytogenetic abnormality (duplication, translocation, or inversion); abnormal methylation of KCNQ10T1 or H19; mutation of CDKN1C gene.
Frequency:
Approximately 1/13,000
Clinical features:
Birth weight is increased and children continue to grow rapidly, slowing around 7-8 years of age. Other associated features include macroglossia, hemihyperplasia, neonatal hypoglycemia, omphalocele, and increased risk of Wilms tumor and hepatoblastoma.
Management:
Treatment of acute problems in infancy, including hypoglycemia and congenital anomalies. Some require surgical reduction of tongue size. A program of monitoring for neoplasia should be instituted.
Genetic counseling:
Approximately 85% of cases are sporadic, but 10–15% are familial, transmitted as autosomal dominant traits, in some cases due to CDKN1C mutation.