ORPHA:116
Beckwith-Wiedemann syndrome
Synonyms: BWS · Exomphalos-macroglossia-gigantism syndrome · Wiedemann-Beckwith syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
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.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Beckwith-Wiedemann syndrome | BWS · Exomphalos-macroglossia-gigantism syndrome · Wiedemann-Beckwith syndrome |
| fr | Syndrome de Beckwith-Wiedemann | BWS · Syndrome d'omphalocèle-macroglossie-gigantisme · Syndrome de Wiedemann-Beckwith |
| de | Beckwith-Wiedemann-Syndrom | BWS · Exomphalos - Makroglossie - Gigantismus · Wiedemann-Beckwith-Syndrom |
| es | Síndrome de Beckwith-Wiedemann | Onfalocele-macroglosia-gigantismo · SBW · Síndrome de Wiedemann-Beckwith |
| it | Sindrome di Beckwith-Wiedemann | BWS · Disomia uniparentale paterna del cromosoma 11, tipo in mosaico · Disomia uniparentale paterna del cromosoma 11, tipo mosaico · Esonfalo - macroglossia - gigantismo · Sindrome di Wiedemann-Beckwith |
| nl | Syndroom van Beckwith-Wiedemann | BWS · Exomphalos - macroglossie - gigantisme-syndroom · Syndroom van Wiedemann-Beckwith |
| pt | Síndrome Beckwith-Wiedemann | Síndrome Wiedemann-Beckwith · Síndrome de exonfalos-macroglossia-gigantismo |
| pl | Zespół Beckwitha i Wiedemanna | BWS · Przepuklina pępowinowa - makroglosja - gigantyzm · Zespół Wiedemanna i Beckwitha |
| cs | Beckwithův-Wiedemannův syndrom | BWS · Syndrom zahrnující exomphalus, makroglosii a gigantismus · EMG syndrom · Wiedemannův-Beckwithův syndrom · Beckwith-Wiedemannův syndrom · Wiedemann-Beckwithův syndrom |
| uk | Синдром Беквіта-Відемана | BWS · Синдром екзомфалос-макроглосія-гігантизм · Синдром Відемана-Беквіта |
| zh | Beckwith-Wiedemann综合征 | 脐凸出-舌肥大-巨人症综合征 |
| tr | Beckwith-Wiedemann sendromu | BWS · Wiedemann-Beckwith sendromu · Ekzomfal-makroglosi-jigantism sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 130650 | E | validated | |
| ICD-10 | Q87.3 | NTBT | inclusion | validated |
| ICD-11 | LD2C | NTBT | index | validated |
| MONDO | 0007534 | E | validated | |
| MeSH | D001506 | E | validated | |
| UMLS | C0004903 | E | validated | |
| GARD | 3343 | E | validated | |
| MedDRA | 10050344 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (9):
- ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:641343Imprinting disorders
rare genetic diseases - ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases - ORPHA:156207Macroglossia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare surgical maxillo-facial diseases - ORPHA:93460Overgrowth syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:183422Polymalformative genetic syndrome with increased risk of developing cancer
rare genetic diseases; rare neoplastic diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
Children (6):
- ORPHA:231127Beckwith-Wiedemann syndrome due to 11p15 microdeletion
- ORPHA:96076Beckwith-Wiedemann syndrome due to 11p15 microduplication
- ORPHA:231130Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
- ORPHA:231120Beckwith-Wiedemann syndrome due to CDKN1C mutation
- ORPHA:231117Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
- ORPHA:96193Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
4
Genes
0 direct · 5 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CDKN1C | ORPHA:231120Beckwith-Wiedemann syndrome due to CDKN1C mutation | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1786 | ENSG00000129757 | 600856 | 11p15.4 | cyclin dependent kinase inhibitor 1C | 26077438[PMID]_20803657[PMID]_20301568[PMID] |
| H19 | ORPHA:231117Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | Role in the phenotype of | Assessed | HGNC:4713 | ENSG00000130600 | 103280 | 11p15.5 | H19 imprinted maternally expressed transcript | 21863054[PMID]_20803657[PMID]_20301568[PMID] |
| H19 | ORPHA:231127Beckwith-Wiedemann syndrome due to 11p15 microdeletion | Role in the phenotype of | Assessed | HGNC:4713 | ENSG00000130600 | 103280 | 11p15.5 | H19 imprinted maternally expressed transcript | 15314640[PMID] |
| IGF2 | ORPHA:231117Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | Role in the phenotype of | Assessed | HGNC:5466 | ENSG00000167244 | 147470 | 11p15.5 | insulin like growth factor 2 | 21863054[PMID]_20803657[PMID]_20301568[PMID] |
| KCNQ1OT1 | ORPHA:231117Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 | Role in the phenotype of | Assessed | HGNC:6295 | ENSG00000269821 | 604115 | 11p15.5 | KCNQ1 opposite strand/antisense transcript 1 | 12019213[PMID]_20803657[PMID]_20301568[PMID] |
5
Prevalence and incidence
6 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.5 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Prevalence at birth | 1-9 / 100 000 | 1.3 / 100 000 | Spain | Value and class | Validated | 10199027[PMID] |
| Prevalence at birth | 1-9 / 100 000 | 5.25 / 100 000 | Japan | Value and class | Validated | 2092586[PMID]_7424972[PMID]_ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 7.4 / 100 000 | Jamaica | Value and class | Validated | 5434588[PMID] |
| Prevalence at birth | 1-5 / 10 000 | 10 / 100 000 | Italy | Value and class | Validated | 23918458[PMID] |
| Point prevalence | 1-5 / 10 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
85 annotations · validated 2024-02-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001520 | Large for gestational age | Diagnostic criterion |
| HP:0002664 | Neoplasm | |
| HP:0000098 | Tall stature | |
| Frequent (79-30%) | ||
| HP:0000309 | Abnormal midface morphology | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0005616 | Accelerated skeletal maturation | Diagnostic criterion |
| HP:0009908 | Anterior creases of earlobe | |
| HP:0100555 | Asymmetric growth | |
| HP:0001139 | Choroideremia | |
| HP:0000280 | Coarse facial features | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000105 | Enlarged kidney | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0001528 | Hemihypertrophy | Diagnostic criterion |
| HP:0002150 | Hypercalciuria | |
| HP:0000842 | Hyperinsulinemia | |
| HP:0001943 | Hypoglycemia | |
| HP:0100876 | Infra-orbital crease | Diagnostic criterion |
| HP:0006267 | Large placenta | Diagnostic criterion |
| HP:0031510 | Linear earlobe crease | |
| HP:0011417 | Long umbilical cord | |
| HP:0000158 | Macroglossia | Diagnostic criterion |
| HP:0000303 | Mandibular prognathia | |
| HP:0000995 | Melanocytic nevus | |
| HP:0011800 | Midface retrusion | |
| HP:0008659 | Multiple small medullary renal cysts | |
| HP:0001998 | Neonatal hypoglycemia | |
| HP:0000121 | Nephrocalcinosis | |
| HP:0000112 | Nephropathy | |
| HP:0001052 | Nevus flammeus | |
| HP:0001513 | Obesity | |
| HP:0001539 | Omphalocele | Diagnostic criterion |
| HP:0001561 | Polyhydramnios | Diagnostic criterion |
| HP:0004464 | Postauricular pit | |
| HP:0008523 | Posterior helix pit | Diagnostic criterion |
| HP:0001622 | Premature birth | |
| HP:0000269 | Prominent occiput | |
| HP:0000520 | Proptosis | |
| HP:0001582 | Redundant skin | |
| HP:0030720 | Subchorionic septal cyst | |
| HP:0001537 | Umbilical hernia | |
| HP:0003271 | Visceromegaly | Diagnostic criterion |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0012090 | Abnormal pancreas morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0006744 | Adrenocortical carcinoma | |
| HP:0008186 | Adrenocortical cytomegaly | Pathognomonic sign |
| HP:0001640 | Cardiomegaly | |
| HP:0000175 | Cleft palate | |
| HP:0008676 | Congenital megaureter | |
| HP:0000028 | Cryptorchidism | |
| HP:0002194 | Delayed gross motor development | |
| HP:0001540 | Diastasis recti | Diagnostic criterion |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0000329 | Facial hemangioma | Diagnostic criterion |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0000150 | Gonadoblastoma | |
| HP:0002884 | Hepatoblastoma | Diagnostic criterion |
| HP:0002240 | Hepatomegaly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0000821 | Hypothyroidism | |
| HP:0000023 | Inguinal hernia | |
| HP:0000239 | Large fontanelles | |
| HP:0030255 | Large intestinal polyposis | |
| HP:0100243 | Leiomyosarcoma | |
| HP:0005562 | Multiple renal cysts | |
| HP:0002667 | Nephroblastoma | Diagnostic criterion |
| HP:0000787 | Nephrolithiasis | |
| HP:0003006 | Neuroblastoma | Diagnostic criterion |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0000362 | Otosclerosis | |
| HP:0001901 | Polycythemia | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002859 | Rhabdomyosarcoma | Diagnostic criterion |
| HP:0010535 | Sleep apnea | |
| HP:0001744 | Splenomegaly | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000073 | Ureteral duplication | |
| HP:0100589 | Urogenital fistula | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000260 | Wide anterior fontanel | |
| Very rare (<4-1%) | ||
| HP:0002308 | Chiari malformation | |
| HP:0000365 | Hearing impairment | |
| HP:0000852 | Pseudohypoparathyroidism | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301568[PMID]_842515[PMID]_1872243[PMID]_7604127[PMID]_9083309[PMID]_10755868[PMID]_11124932[PMID]_12584548[PMID]_12970646[PMID]_14568801[PMID]_15580204[PMID]_15811927[PMID]_16370286[PMID]_25085994[PMID]_26367199[PMID]_22015620[PMID]_14231762[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/116
- This record as JSON: /data/d/116.json