Beckwith-Wiedemann syndrome (BWS), or Beckwith-Wiedemann spectrum, is a congenital overgrowth disorder characterized by a unique set of features that can consist of:
macroglossia: most common clinical finding 4
ear pits or creases
lateralized overgrowth (hemihypertrophy)
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Epidemiology
The incidence is estimated at around 1:10,000 live births. As such, it is the most common overgrowth and cancer predisposition disorder 8,9. There is no gender or ethnicity predilection.
Associations
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malignancies
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non-malignant renal diseases 3
nephromegaly
renal medullary dysplasia
nephrolithiasis in adolescents and adults
placental pathology
postnatal hypoglycemia
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genitourinary anomalies
Pathology
The majority of cases are sporadic while a small proportion (5-10%) is autosomal dominant with abnormality related to chromosome 11p15.5 (i.e. Beckwith-Wiedemann syndrome critical region). The syndrome carries a well-recognized increased risk for the development of neoplasia 4. Another 10-20% of cases show paternal disomy 11, thought to arise from mitotic recombination during early embryogenesis. Phenotypic expression varies widely.
History and etymology
First described independently by J B Beckwith in 1963 and H R Wiedemann in 1964 6,7.
Differential diagnosis
The following disorders share features with Beckwith-Wiedemann syndrome:
Perlman syndrome: extremely rare; organomegaly, nephroblastomatosis, unique facial features, predisposition to developing Wilms tumor
Simpson-Golabi-Behmel syndrome: X-linked recessive inheritance; hypertelorism, macrocephaly, macrostomia, coarse features, intellectual disability
Sotos syndrome: autosomal dominant with sporadic mutations; advanced bone age, acromegaly, macrocephaly, dolichocephaly, frontal bossing, downward slanting palpebral fissures, prognathism (protruding mandible), pointed chin, intellectual disability
Weaver syndrome: extremely rare, autosomal dominant; frontal bossing, round face, hypertelorism, micrognathia