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Disease Profile
Beckwith-Wiedemann syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-5 / 10 000
Age of onset
Neonatal
ICD-10
Q87.3
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
Wiedemann-Beckwith Syndrome (WBS); Exomphalos macroglossia gigantism syndrome; EMG Syndrome
Categories
Congenital and Genetic Diseases
Summary
Beckwith-Wiedemann
The cause of BWS is complex and is different for different people, but involves
Diagnosis of BWS is based on symptoms with the support of
Symptoms
- Large tongue
- Abdominal wall defect (weakness in the stomach wall near the umbilical cord)
- Overgrowth on one side of the body
- A specific type of kidney
tumor (Wilms tumor) - Abnormal level of insulin in the blood
Other features may include:
- Large birth weight
- Pink or red facial birthmarks (angel kiss or stork's bite)
- Ear creases or pits
Low blood sugar that lasts less than a week- Enlarged liver or kidneys
- Umbilical hernia
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Large for gestational age |
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ] |
0001520 |
Tall stature |
Increased body height
|
0000098 |
30%-79% of people have these symptoms | ||
Abnormality of the shape of the midface | 0430026 | |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Anterior creases of earlobe |
Earlobe crease
|
0009908 |
Choroideremia | 0001139 | |
Coarse facial features |
Coarse facial appearance
|
0000280 |
0000776 | ||
Enlarged kidney |
Large kidneys
|
0000105 |
Exocrine pancreatic insufficiency |
Inability to properly digest food due to lack of pancreatic digestive enzymes
|
0001738 |
Hemihypertrophy |
Asymmetric overgrowth
|
0001528 |
Hypercalciuria |
Elevated urine calcium levels
|
0002150 |
Infra-orbital crease |
Crease in skin under the eye
Groove in skin under the eye
[ more ] |
0100876 |
Large placenta | 0006267 | |
Macroglossia |
Abnormally large tongue
Increased size of tongue
Large tongue
[ more ] |
0000158 |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Melanocytic nevus |
Beauty mark
|
0000995 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Neonatal hypoglycemia |
Low blood sugar in newborn
|
0001998 |
Nephropathy | 0000112 | |
Nevus flammeus |
port-wine stain
|
0001052 |
Obesity |
Having too much body fat
|
0001513 |
Omphalocele | 0001539 | |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
Posterior helix pit |
Indentation in back of outer ear
|
0008523 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Prominent occiput |
Prominent back of the skull
Prominent posterior skull
[ more ] |
0000269 |
Proptosis |
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] |
0000520 |
Redundant skin |
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] |
0001582 |
Subchorionic septal cyst | 0030720 | |
Umbilical hernia | 0001537 | |
Wide mouth |
Broad mouth
Large mouth
[ more ] |
0000154 |
5%-29% of people have these symptoms | ||
Abnormal pancreas morphology |
Abnormally shaped pancreas
|
0012090 |
Adrenocortical carcinoma | 0006744 | |
Adrenocortical cytomegaly | 0008186 | |
Cardiomegaly |
Enlarged heart
Increased heart size
[ more ] |
0001640 |
Cleft roof of mouth
|
0000175 | |
Congenital megaureter | 0008676 | |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dandy-Walker malformation | 0001305 | |
Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
Elevated |
0006254 | |
Facial hemangioma | 0000329 | |
Feeding difficulties in infancy | 0008872 | |
Gonadoblastoma | 0000150 | |
Hepatoblastoma | 0002884 | |
Hepatomegaly |
Enlarged liver
|
0002240 |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Hypothyroidism |
Underactive thyroid
|
0000821 |
Inguinal hernia | 0000023 | |
Large intestinal polyposis | 0030255 | |
Leiomyosarcoma | 0100243 | |
Multiple renal cysts |
Multiple kidney cysts
|
0005562 |
Nephroblastoma | 0002667 | |
Nephrolithiasis |
Kidney stones
|
0000787 |
Neuroblastoma |
Cancer of early nerve cells
|
0003006 |
Neurodevelopmental delay | 0012758 | |
Neurological speech impairment |
Speech disorder
Speech impairment
Speech impediment
[ more ] |
0002167 |
Otosclerosis | 0000362 | |
Polycythemia |
Increased red blood cells
|
0001901 |
Prominent metopic ridge | 0005487 | |
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include Simpson-Golabi-Behmel, Costello, Perlman, and Sotos syndromes, and mucopolysaccharidosis type VI (see these terms).
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Social Networking Websites
- Visit the following Facebook groups related to Beckwith-Wiedemann syndrome:
Beckwith Wiedemann Syndrome
Adults/Teens Living with Beckwith Wiedemann Syndrome Coffee Group
Learn more
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Where to Start
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Beckwith-Wiedemann syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Beckwith-Wiedemann syndrome. Click on the link to view a sample search on this topic.
References
- Beckwith-Wiedemann syndrome. Genetics Home Reference. June, 2015; https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome.
- Shuman C, Beckwith JB, Smith AC & Weksberg R. Beckwith-Wiedemann Syndrome. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK1394/.
- Kalish JM, Doros L & Helman LJ. Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. American Association of Cancer Research. https://clincancerres.aacrjournals.org/content/clincanres/23/13/e115.full.pdf.
- Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J et al.. Expert Consensus Document: Clinical and Molecular Diagnosis, Screening and Management of Beckwith-Wiedemann Syndrome: An International Consensus Statement. Nat Rev Endocrinol. Apr 2018; 14(4):229-249. https://www.ncbi.nlm.nih.gov/pubmed/29377879.
- Wang KH, Kupa J, Duffy KA, Kalish JM. Diagnosis and Management of Beckwith-Wiedemann Syndrome.. Front Pediatr. Jan 21, 2020; 7(562):1-12. https://www.ncbi.nlm.nih.gov/pubmed/32039119.
- Gene regulation. Genetics Home Reference. August 18, 2015; https://ghr.nlm.nih.gov/glossary=generegulation.
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