Beckwith-wiedemann syndromeQ87.3
Synonym(s)
EMG Syndrome; Exomphalos Macroglossia Giantism Syndrome; Wiedemann-Beckwith Syndrome; Wiedemann's Syndrome
HistoryThis section has been translated automatically.
Wiedemann, 1964
DefinitionThis section has been translated automatically.
Large growth syndrome with malformations and tumours.
Occurrence/EpidemiologyThis section has been translated automatically.
Frequency: 1/12,000 to 1/15,000 births.
EtiopathogenesisThis section has been translated automatically.
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 featuresThis section has been translated automatically.
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)This section has been translated automatically.
Embryonic tumours, especially Wilms' tumours, are more likely to occur.
LiteratureThis section has been translated automatically.
- 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