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GTR Home > Conditions/Phenotypes > Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome

Synonyms
EMG Syndrome; Exomphalos macroglossia gigantism syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
Unknown inheritance (Orphanet)

Summary

Beckwith-Wiedemann syndrome (BWS) is a growth disorder variably characterized by neonatal hypoglycemia, macrosomia, macroglossia, hemihyperplasia, omphalocele, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), visceromegaly, adrenocortical cytomegaly, renal abnormalities (e.g., medullary dysplasia, nephrocalcinosis, medullary sponge kidney, and nephromegaly), and ear creases/pits. BWS is considered a clinical spectrum, in which affected individuals may have many of these features or may have only one or two clinical features. Early death may occur from complications of prematurity, hypoglycemia, cardiomyopathy, macroglossia, or tumors. However, the previously reported mortality of 20% is likely an overestimate given better recognition of the disorder along with enhanced treatment options. Macroglossia and macrosomia are generally present at birth but may have postnatal onset. Growth rate slows around age seven to eight years. Hemihyperplasia may affect segmental regions of the body or selected organs and tissues. [from GeneReviews]

Available tests

157 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (157 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BWCR, BWS, KIP2, WBS, p57, p57Kip2, CDKN1C
    Summary: cyclin dependent kinase inhibitor 1C

  • Also known as: BWS, H19-DMD, IC1, ICR1, ICR1-DMR, SRS1, WT2

  • Also known as: C11orf43, GRDF, IGF-II, PP9974, SRS3, IGF2
    Summary: insulin like growth factor 2

  • Also known as: ATFB1, ATFB3, JLNS1, KCNA8, KCNA9, KVLQT1, Kv1.9, Kv7.1, LQT, LQT1, RWS, SQT2, WRS, KCNQ1
    Summary: potassium voltage-gated channel subfamily Q member 1

  • Also known as: KCNQ1-AS2, KCNQ10T1, Kncq1, KvDMR1, KvLQT1-AS, LIT1, NCRNA00012, KCNQ1OT1
    Summary: KCNQ1 opposite strand/antisense transcript 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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