Beckwith-wiedemann syndrome - Altmeyers Encyclopedia

Synonym(s)

EMG Syndrome; Exomphalos Macroglossia Giantism Syndrome; Wiedemann-Beckwith Syndrome; Wiedemann's Syndrome

History
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Wiedemann, 1964

Definition
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Large growth syndrome with malformations and tumours.

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Occurrence/Epidemiology
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Frequency: 1/12,000 to 1/15,000 births.

Etiopathogenesis
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mutation of the genes IGF-2 (insulin-like growth factor 2) and H19, which are located in the band 11p15.5 of chromosome 11.

Clinical features
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Nevus flammeus of the face, sparse fine short hairs, increased birth weight and birth length of infants. Asymmetrical growth in size. Visceromegaly with enlargement of liver, spleen or kidneys, macroglossia. Furthermore, malformations of the abdominal wall such as umbilical hernias, omphalocele as well as renal cysts or hydronephrosis, microcephaly with exophthalmos, enlargement of the penis, clitoris and labia as well as indentations at the dorsal helix edge of the ears (notch ears). Mostly slight mental retardation.

Complication(s)
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Embryonic tumours, especially Wilms' tumours, are more likely to occur.

Literature
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Cajaiba MM et al (2007) Mesenchymal hamartoma of the liver associated with features of Beckwith-Wiedemann syndrome and high serum alpha-fetoprotein levels. Pediatr Dev Pathol 10: 233-238
Rougemont AL et al (2007) Accessory liver lobe with mesothelial inclusion cysts in an omphalocele: a new malformative association. Pediatr Dev Pathol 10: 224-228
Wiedemann HR (1964) Complexe malformatif familal avec hernie ombilicale et macroglossie; a "syndrome nouveau"? Journal de genetique humaine 13: 223-363