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Start free with EleplanBeckwith-Wiedemann syndrome
ORPHA:116Malformation syndrome
Also called BWS · Exomphalos-macroglossia-gigantism syndrome · Wiedemann-Beckwith syndrome
What it is
A rare imprinting disorder characterized by pre- and postnatal overgrowth, macroglossia, abdominal wall defects and an elevated tumor risk. The clinical expression is variable, ranging from lateralised overgrowth to a pronounced clinical presentation.
Key facts
- Prevalence
- 1-9 / 100 000 (at birth, Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant, Unknown
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Common30–79%
40- Abnormality of earlobe
- Abnormal midface morphology
- Accelerated skeletal maturationDiagnostic criterion
- Anterior creases of earlobe
- Asymmetric growth
- Choroideremia
- Coarse facial features
- Congenital diaphragmatic hernia
- Enlarged kidney
- Exocrine pancreatic insufficiency
- HemihypertrophyDiagnostic criterion
- Hypercalciuria
- Hyperinsulinemia
- Hypoglycemia
- Infra-orbital creaseDiagnostic criterion
- Large placentaDiagnostic criterion
- Linear earlobe crease
- Long umbilical cord
- MacroglossiaDiagnostic criterion
- Mandibular prognathia
- Melanocytic nevus
- Midface retrusion
- Multiple small medullary renal cysts
- Neonatal hypoglycemia
- Nephrocalcinosis
- Nephropathy
- Nevus flammeus
- Obesity
- OmphaloceleDiagnostic criterion
- PolyhydramniosDiagnostic criterion
- Postauricular pit
- Posterior helix pitDiagnostic criterion
- Premature birth
- Prominent occiput
- Proptosis
- Redundant skin
- Subchorionic septal cyst
- Umbilical hernia
- VisceromegalyDiagnostic criterion
- Wide mouth
Sometimes5–29%
39- Abnormal cardiovascular system morphology
- Abnormality of speech or vocalization
- Abnormal pancreas morphology
- Adrenocortical carcinoma
- Adrenocortical cytomegalyPathognomonic sign
- Cardiomegaly
- Cleft palate
- Congenital megaureter
and 31 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Genes reported in subtypes
Orphanet records these genes on 3 more specific entries under this disorder, not on this entry itself:
A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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