Beckwith-Wiedemann syndrome
Findings
No curated finding names Beckwith-Wiedemann syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by overgrowth, tumor predisposition and congenital malformations.
Definition from the Mondo Disease Ontology (MONDO:0007534), read 2026-09-29. CC BY 4.0.
Features
86 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Large for gestational ageHPOHP:0001520
- Very frequent (80% to 99% of cases)
- NeoplasmHPOHP:0002664
- Very frequent (80% to 99% of cases)
- Tall statureHPOHP:0000098
- Very frequent (80% to 99% of cases)
- Abnormal earlobe morphologyHPOHP:0000363
- Frequent (30% to 79% of cases)
- Abnormal midface morphologyHPOHP:0000309
- Frequent (30% to 79% of cases)
- Accelerated skeletal maturationHPOHP:0005616
- Frequent (30% to 79% of cases)
- Anterior creases of earlobeHPOHP:0009908
- Frequent (30% to 79% of cases)
- Asymmetric growthHPOHP:0100555
- Frequent (30% to 79% of cases)
- Chorioretinal scalloped atrophyHPOHP:0001139
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Frequent (30% to 79% of cases)
- Enlarged kidneyHPOHP:0000105
- Frequent (30% to 79% of cases)
Show the remaining 74
- Exocrine pancreatic insufficiencyHPOHP:0001738
- Frequent (30% to 79% of cases)
- HemihypertrophyHPOHP:0001528
- Frequent (30% to 79% of cases)
- HypercalciuriaHPOHP:0002150
- Frequent (30% to 79% of cases)
- HyperinsulinemiaHPOHP:0000842
- Frequent (30% to 79% of cases)
- HypoglycemiaHPOHP:0001943
- Frequent (30% to 79% of cases)
- Infra-orbital creaseHPOHP:0100876
- Frequent (30% to 79% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CDKN1CHGNC:1786
- Definitive · Ambry Genetics · Autosomal dominant · 2015
- Definitive · G2P · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- HGNC:21269HGNC:21269
- Strong · PanelApp Australia · Autosomal recessive · 2025
- HGNC:4713HGNC:4713
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- HGNC:6295HGNC:6295
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- Narrower terms (8)
- Beckwith-Wiedemann syndrome due to 11p15 microdeletion
- Beckwith-Wiedemann syndrome due to 11p15 microduplication
- Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
- Beckwith-Wiedemann syndrome due to CDKN1C mutation
- Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
- Beckwith-Wiedemann syndrome due to NSD1 mutation
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
- Franceschini Vardeu Guala syndrome
Other names
3 names
Resolves to: Beckwith-Wiedemann syndrome
- Also called
- BWSexomphalos-macroglossia-gigantism syndromeWiedemann-Beckwith syndrome