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Disease name
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베크위드-위드만 증후군
Beckwith-Wiedemann syndrome
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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CDKN1C
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11p15.4 |
Cyclin-dependent kinase inhibitor 1C |
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H19
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11p15.5 |
- |
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IGF2
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11p15.5 |
Insulin-like growth factor II |
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KCNQ1OT1
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11p15.5 |
- |
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Prevalence
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1-9 / 100 000 |
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Inheritance
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산발성, 상염색체 우성, 다유전자, 다인자성 |
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Age of onset
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소아기 |
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ICD 10 code
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Q87.3 |
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MIM number
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130650
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Synonym
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Exomphalos - macroglossia - gigantism |
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Wiedemann-Beckwith syndrome |
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Summary
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Beckwith-Wiedemann Syndrome (BWS) is an overgrowth disorder characterized by macrosomia, macroglossia, organomegaly and developmental abnormalities (in particular abdominal wall defects with exomphalos). Its incidence is estimated to be 1 per 13,700 live births. BWS patients are prone to the development of embryonal tumors (most commonly Wilms` tumor or nephroblastoma). BWS is a multigenetic disorder caused by dysregulation of gene expression in the imprinted 11p15 chromosomal region. Various 11p15 defects have been implicated and epigenetic defects account for about two thirds of cases. The management of patients with BWS involves the surgical cure of exomphalos and monitoring of hypoglycemia in the neonatal period. It also involves the treatment of macroglossia and the screening for embryonal tumor that can be facilitated by genotyping. A recent series of reports suggested that assisted reproductive technology (ART) may increase the risk of imprinting disorders, and BWS in particular. |
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