Cohen MM Jr, Nori G, Weksberg R. Overgrowth Syndromes. Kalish JM, et al. Translocations and inversions can cause additional problems if the places where the chromosomes break (breakpoints) interrupt important genes, or if pieces of the chromosome break off and become lost. Duffy KA, et al. This gene provides instructions for making a protein that helps control growth before birth. Beckwith-Wiedemann Syndrome. Reviewed June 2015. If we dont have a program for you now, please continue to check back with us. Patients with BWS may have an enlarged tongue (macroglossia), which can cause difficulties in speaking, feeding, and breathing. However, in newborns with an omphalocele, surgical repair of the defect is typically required shortly after birth. Powered by NORD, the IAMRARE Registry Platform is driving transformative change in the study of rare disease. Calvello M, Tabano S, Colapietro P, Maitz S, Pansa A, Augello C, Lalatta F, Gentilin B, Spreafico F, Calzari L, Perotti D, Larizza L, Russo S, Selicorni A, Sirchia SM, Miozzo M. Epigenetics. Cancer Med. The Childrens Hospital of Philadelphia. Beckwith-Wiedemann syndrome - About the Disease - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. Beckwith Wiedemann syndrome (BWS) is the most common overgrowth and cancer predisposition disorder caused by the alteration in chromosome 11p15. What are my options for cancer screening? www.centerwatch.com, For more information about clinical trials conducted in Europe, contact: A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes. Epub 2007 Mar 6. Epub 2022 Jul 21. eCollection 2019. Our observation of a high frequency of germline p53 mutations in children with sporadic ADCC suggests . Sotos syndrome is a rare genetic disorder due to sporadic mutations of the NSD1 gene located on chromosome 5q35.3. This region is referred to as the BWS critical region. Falecia Thomas, MS, CGC. However, more research is needed to determine the relationship between features of adults with BWS and pediatric symptoms. The trend in AFP levels over time should be followed in patients with BWS and normal AFP values for children with BWS are available to aid in interpretation of results. As a result, there are too many active paternally-expressed genes (IGF2) in this region and not enough maternally-expressed genes (H19, CDKN1C). However, some genes are turned off or preferentially silenced based upon which parent that gene came from (a process known as genomic imprinting). Testing for these disorders requires collecting a blood sample or other tissue samples (usually DNA from blood cells). The PubMed wordmark and PubMed logo are registered trademarks of the U.S. Department of Health and Human Services (HHS). Baltimore. Genomic imprinting is controlled by marks on the DNA called methylation. Human Malformations and Related Anomalies 3rd Edition. Perlman syndrome is an extremely rare genetic disorder due to recessive mutations in the DIS3L2 gene located on chromosome 2q37.1. Phone: 215-590-1278 Features that will more likely lead to a positive diagnosis of BWS are termed cardinal features (including macroglossia, omphalocele, lateralized overgrowth, mulitple Wilms tumors, hyperinsulinism, and specific pathology findings including adrenal cytomegaly (enlargement of the cells in the adrenal gland) and placental mesenchymal dysplasia (enlargement of cells in the placenta)). Recommendations of the scientific committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. History Clinicians taking the history of a patient with Beckwith-Wiedemann syndrome should note any family history of childhood cancer, hemihypertrophy, macroglossia, or other clinical. NCI's Dictionary of Cancer Terms provides easy-to-understand definitions for words and phrases related to cancer and medicine. CUGC for Simpson-Golabi-Behmel syndrome (SGBS). This includes looking at the methylation marks (11p15.5 methylation analysis) on the DNA followed by looking at the number of copies of the imprinting control regions (11p15.5 copy number analysis) that are present in that region (normally there should be two copies). It is presumed that the overgrowth associated with Beckwith-Wiedemann syndrome and hemihypertrophy may develop because of improper inactivation of one or more growth-suppressing genes, or, alternately, because of overexpression of genes that encourage cell growth. Front Pediatr. 2018 Apr;14(4):229-249. doi: 10.1038/nrendo.2017.166. In addition, infants and patients with BWS should undergo regular abdominal and renal ultrasounds, and measurement of serum alpha-fetoprotein levels as recommended enabling early detection and treatment of certain malignancies that may occur in association with BWS (e.g., Wilms tumor, hepatoblastoma). review and meta-analysis. Epub 2013 Aug 5. Approximately 80% of people with BWS have changes that appear to occur randomly (sporadically). Beckwith-Wiedemann Syndrome. Epub 2018 Jan In fact, it is estimated that those with hemihyperplasia may have a much higher risk, up to 4 times greater, than people with BWS without hemihyperplasia. The major features of BWS, macrosomia and macroglossia, are often present at birth. Treatment BWS is caused by changes on chromosome 11p15.5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person. Affected infants and patients may also demonstrate developmental abnormalities including delays in reaching developmental milestones (e.g., sitting, crawling, and walking), delays in coordination of muscular and mental activity (psychomotor retardation), and delays in language skills. They should undergo feeding evaluation and sleep studies in addition to consultations with plastic surgeons and pulmonologists if needed. If a child has an identical twin that doesnt have signs of BWS, the twin should still be screened with ultrasounds and serum alpha-fetoprotein blood tests, as noted above. Mussa A, et al. Features that are seen in BWS but are also present in the general population are termed suggestive features (including large birth weight, macrosomia, facial nevus simplex, polyhydramnios or placentamegaly, ear creases or pits, hypoglycemia, embryonal tumor such as single Wilms tumors or hepatoblastomas, nephromegaly or hepatomegaly, umbilical hernia, and diastasis recti). Resources for Families Find a Doctor Clinical Trials Get Involved Get Support Additional Information Sotos syndrome is an autosomal dominant disorder, meaning only one copy of the mutated gene is necessary for a patient to be affected. MeSH In some children with Beckwith-Wiedemann syndrome, specific body parts may grow abnormally large on one side of the body, leading to an asymmetric or uneven appearance. Up to 85 percent of Beckwith-Wiedemann syndrome and hemihypertrophy cases are sporadic, meaning they occur by chance and without a family history of the condition. Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Orphanet. A variety of kidney (renal) abnormalities can occur in individuals with BWS, including abnormally large kidneys (nephromegaly), improper development of the innermost tissues of the kidney (renal medullary dysplasia), and the formation of calcium deposits in the kidney (nephrocalcinosis), which could potentially impair kidney function. Possible causes for Beckwith-Wiedemann syndrome are: While some cases are inherited from a parent, most cases occur as new genetic abnormalities only within the affected child. Features that can be detected by prenatal imaging include increased amniotic fluid surrounding the fetus (polyhydramnios), an enlarged placenta (placentamegaly), omphalocele, enlarged abdominal circumference, nephromegaly, macroglossia, and/or other abnormalities. What is the prognosis of a genetic condition? Oxford University Press, New York, NY; 2010:389-405. Neri G, Boccuto L, Stevenson RE. 2013 Jul;58(7):402-9. doi: 10.1038/jhg.2013.51. Genetic Testing Registry: Beckwith-Wiedemann syndrome, National Organization for Rare Disorders (NORD). A team of specialists immediately assessed Finn, and Jennifer Kalish, MD, PhD, diagnosed him with Beckwith-Wiedemann syndrome. In genes that undergo genomic imprinting, methylation is one way that a gene's parent of origin is marked during the formation of egg and sperm cells. National Library of Medicine The 11p overgrowth spectrum is defined as overgrowth and other features associated with genetic changes at a specific chromosomal region known as 11p, the same region that causes Beckwith-Wiedemann syndrome. Domain. What is fetal macrosomia? MedlinePlus links to health information from the National Institutes of Health and other federal government agencies. Beckwith-Wiedemann syndrome (BWS) (OMIM 130650) is a disease of prenatal overgrowth, congenital malformations, and predisposition to cancer. Orthopaedics: Children with leg-length discrepancies may require evaluation by an orthopedist. An unusually large placenta and long umbilical cord may also occur. 5th ed. Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole Other treatment is symptomatic and supportive. Genomics. This heterogeneity leads to the spectrum of clinical features seen in Beckwith-Wiedemann syndrome and hemihypertrophy referred to as the 11p overgrowth spectrum. Beckwith-Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature. We will share highlights from the Deciphering Beckwith-Wiedemann Spectrum Virtual Conference (July 24 and July 25, 2021). Diagnosis is then confirmed with chromosomal studies for abnormalities in chromosome 11. Epub 2013 Jul 3. Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome. Most of the tumors associated with BWS occur in the first 8-10 years of life, and the most common is Wilms tumor (WT). Azzi S, Habib WA, Netchine I. BeckwithWiedemann and RussellSilver Syndromes: from new molecular insights to the comprehension of imprinting regulation. This phenomenon is called imprinting, and is caused by methylation, or a process of marking the DNA to turn certain genes on or off. Some children with this condition are born with an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the belly-button. Obstructive sleep apnea in children with Beckwith-Wiedemann syndrome. doi: The errors allow the cells to grow and divide uncontrollably and to go on living when other cells would die. Sequence similarities. In BWS, both copies of chromosome 11 are received from the father (paternal uniparental disomy (pUPD)). However, twins with BWS tend to present with varying levels of severity (discordance) making it challenging for physicians to diagnose and manage twins with BWS. Patients often have increased muscle tone (hypertonia) and joint problems. BWS is caused by changes on chromosome 11p15.5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person. Abdominal wall defects such as omphalocele, which causes the inside of the abdomen to protrude through the navel, are also present at birth and may require surgery before an infant leaves the hospital. Before Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, https://www.research.chop.edu/bws-registry, https://nord1dev.wpengine.com/for-patients-and-families/information-resources/news-patient-recruitment/, https://www.chop.edu/centers-programs/beckwith-wiedemann-syndrome-clinic, http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome, https://www.ncbi.nlm.nih.gov/books/NBK1394/, https://www.orpha.net/data/patho/Pro/en/BeckwithWiedemann-FRenPro260.pdf, https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/, https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/, https://rarediseases.org/patient-assistance-programs/caregiver-respite/, Learn more about Patient Assistance Programs >, Beckwith-Wiedemann Childrens Foundation International, https://rarediseases.org/non-member-patient/beckwith-wiedemann-childrens-foundation-international/, Learn more about Patient Organization & Membership >, exomphalos-macroglossia-gigantism syndrome, omphalocele-visceromegaly-macroglossia syndrome, visceromegaly-umbilical hernia-macroglossia syndrome. It is generally agreed that at least 1 major feature and 2 minor features are required for a diagnosis of BWS: Omphalocele (abdomen protrudes through navel), Hemihyperplasia, meaning some parts of the body are larger on 1 side, Visceromegaly, which is the enlargement of 1 or more abdominal organ, Embryonal tumor (Wilms tumor, hepatoblastoma, neuroblastoma, rhabdomyosarcoma), Adrenocortical tumor (adrenal gland tumor), Cleft palate, which is a gap in the roof of the mouth, Polyhydramnios (excessive amniotic fluid), Diastatsis recti, which is the separation of the right and left sides of the main abdominal muscle, Hemangioma, a noncancerous tumor made up of blood vessels, Facial nevus flammeus, a hemangioma of the skin, also called a port-wine stain. This has been the (hemihypertrophy, Beckwith source of much debate but the results Wiedemann syndrome, aniridia, and are comparable (except in situations the WAGR sequence) many of which where surgical expertise is limited and are related to the WT1 and WT2 primary surgery results in excessive genes. Mothers of children with BWS may have pregnancy complications, including premature delivery and polyhydramnios, meaning excess amniotic fluid. Early diagnosis of BWS is important because children with BWS are at a higher risk for developing certain tumors, including Wilms tumor and hepatoblastoma (see below). Most children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy grow up to be healthy adults. 2000 Mar 3 Whenever possible, AFP screening should be done at the same center for consistency of results. Mussa A, et al. Screening recommendations may change over time as new technologies are developed and more is learned about BWS. Front Genet. IGF2 is a growth factor. People with paternal UPD are also missing genes that are active only on the maternally inherited copy of the chromosome. For other genes, only the copy inherited from a person's mother (the maternally inherited copy) is expressed. If a tumor develops in association with BWS, the appropriate treatment measures vary depending on the specific tumor present, the stage and/or extent of disease, and/or other factors. Other major features of this condition include abnormally large abdominal organs (visceromegaly), creases or pits in the skin near the ears, low blood sugar (hypoglycemia) in infancy, and kidney abnormalities. Lippincott Williams & Wilkins. Newborns typically demonstrate advanced bone growth, abnormally large hands and/or feet, and characteristic facial features. Wiedemann, a German . If you are concerned about the risk for cancer in your child, talk with your health care team. A chromosome microarray or a single nucleotide polymorphism (SNP) array is used to detect the extent of the region of UPD. What comorbid condition does an individual diagnosed with Beckwith-Wiedemann syndrome have an increased risk of developing? Beckwith-Wiedemann syndrome (BWS) is a growth regulation disorder. BWS is classified as an imprinting disorder. AFP levels typically decline during infancy; however, AFP may be abnormally elevated in blood if certain tumors are present (hepatoblastoma). This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. May;89(5):613-7. doi: 10.1016/j.ygeno.2007.01.005. Smith AC, Choufani S, Ferreira JC, Weksberg R. Growth regulation, imprinted Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome. The .gov means its official. Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder that presents with a wide spectrum of clinical features including overgrowth, abdominal wall defects, macroglossia, neonatal hypoglycemia, and predisposition to embryonal tumors. Beckwith-Wiedemann syndrome is a genetic disorder commonly characterized by overgrowth. 2018; 14(4): 229-249. Publications Stay tuned for new research! Options exist for people interested in having a child when a prospective parent carries a gene mutation that increases the risk for this hereditary cancer syndrome. MacFarland SP, et al. At least half of all cases result from changes in a process called methylation. SAGE Knowledge. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation. The most common features of BWS include macrosomia (large body size), macroglossia (large tongue), abdominal wall defects, an increased risk for childhood tumors, kidney abnormalities, hypoglycemia (low blood sugar) in the newborn period, and unusual ear creases or pits. Belongs to the p53 family. Would you like email updates of new search results? Ma GC, Chen TH, Wu WJ, Lee DJ, Lin WH, Chen M. Diagnostics (Basel). 1900 Crown Colony Drive Watch this video to learn why highly specialized care is so important for children with BWS. Fetal growth patterns in Beckwith-Wiedemann syndrome. Beckwith-Wiedemann syndrome (BWS) comprises of a number of childhood abnormalities, often associated with one or more tumors. With input from doctors, researchers, and the US Food & Drug Administration, NORD has created IAMRARE to facilitate patient-powered natural history studies to shape rare disease research and treatments. This leads to decreased H19 expression and increased IGF2 expression. About 10 percent of people with Beckwith-Wiedemann syndrome develop tumors, typically in childhood. 2014 Mar;22(3). This site needs JavaScript to work properly. 2011 Apr;32(2):159-224. doi: 10.1210/er.2009-0039. The site is secure. Mussa A, Russo S, De Crescenzo A, Freschi A, Calzari L, Maitz S, Macchiaiolo M, Molinatto C, Baldassarre G, Mariani M, Tarani L, Bedeschi MF, Milani D, Melis D, Bartuli A, Cubellis MV, Selicorni A, Cirillo Silengo M, Larizza L, Riccio A, Ferrero GB. After 4 years of age, renal ultrasounds with views of the adrenal glands should be performed until 7 years of age. Matsuoka et al. BWS is caused by changes on chromosome 11p15.5 and is characterized by a wide spectrum of symptoms and physical findings that vary in range and severity from person to person. 2020 Nov;9(21):8216-8225. doi: 10.1002/cam4.3458. Changing lives of those with rare disease. Thirty-eight patients were investigated to determine clinical and/or biological signs associated with a tumor presence. More research is necessary to determine the exact relationship between such technologies and the development of BWS. A normal genetic test result does not rule out the diagnosis of these disorders. Some infants with Beckwith-Wiedemann syndrome have an abnormally large tongue (macroglossia), which may interfere with breathing, swallowing, and speaking. This risk depends on the genetic cause of the condition. Diagnosis and Management of Lateralized overgrowth or isolated lateralized overgrowth (ILO) is a new term used to describe what was previously termed hemihypertrophy or hemihyperplasia. However, if the parents test negative for the mutation (meaning each person's test results found no mutation), the risk to the siblings significantly decreases but their risk may still be higher than an average risk. Expert The different molecular types of BWS each carry a different tumor risk. There is no specific increased risk for BWS within specific race/ethnicity populations although the clinical presentations may vary between groups. Beckwith-Wiedemann syndrome is considered an overgrowth syndrome. For example, ultrasound imaging may allow assessment of organ size and overall size of the developing fetus and potentially reveal other findings that may be suggestive of BWS. The most common are: Wilms tumor, a kidney cancer. Bookshelf Approximately 5% of people with BWS are found to have mutations of the CDKN1C gene. 1 BWS has a wide clinical spectrum. Additionally, screening for hypoglycemia is important in infancy. A BWS consensus scoring system has been established to help with the clinical diagnosis of BWS and to determine the need for molecular testing. In most cases, these genetic changes occur in some but not all of the cells, resulting in mosaicism. Division of Human Genetics Screening for Wilms tumor in children with Beckwith-Wiedemann syndrome or idiopathic hemihypertrophy. Some children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy may need to see other medical specialists. Endocrinology: Children with severe hypoglycemia should be evaluated by an endocrinologist, and treatment may be required until this normalizes. A cancer screening. Beckwith-Wiedemann Syndrome. The risk for hepatoblastoma drops significantly in children older than 4, so the remaining ultrasounds can focus specifically on the kidneys (renal ultrasounds), which includes the adrenal glands that sit on top of the kidneys. 2018;60(5):506-513. doi: 10.24953/turkjped.2018.05.006. 2019;179(4): 525-533. Cancer Screening tools that are epigenetically based have shown promise in diagnosing which types of cancer? Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. Beckwith-Wiedemann: Methylation analysis of 11p15.5 with automatic reflex to CDKN1C if negative: 4-6 weeks: $1,200* 81401x2, 81479: Beckwith-Wiedemann: Methylation analysis of 11p15.5 only: 3-4 weeks: $600: 81401x2: Beckwith-Wiedemann: 11p15.5 high resolution copy number analysis only (aCGH) 3-4 weeks: $750: 81479: Beckwith-Wiedemann: CDKN1C . Kalish JM, Jiang CL, Bartolomei MS. Epigenetics and Imprinting in Human Disease. Abdominal ultrasounds are safe and painless, and do not involve the use of radiation. Clin Genet. Elsevier, Philadelphia, PA; 2015: 218-222. . Choufani S, Shuman C, Weksberg R. Beckwith-Wiedemann Syndrome. (select all that apply) a. Colon b. doi: 10.1002/mgg3.1796. Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry. Their life expectancy is usually normal. https://nord1dev.wpengine.com/for-patients-and-families/information-resources/news-patient-recruitment/, For information about clinical trials sponsored by private sources, in the main, contact: NORD is a registered 501(c)(3) charity organization. Please note that NORD provides this information for the benefit of the rare disease community. GWpUPD is associated with a greater tumor risk. Beckwith-Wiedemann spectrum is a genetic disorder that can cause overgrowth of body parts (hypertrophy) along with other medical findings (described below). It is possible to test each of these genes for inherited cancer-causing mutations.17 Women who inherit a mutation in BRCA1 or BRCA2 experience a 50% to 80% lifetime risk of developing breast cancer. A polysomnography (sleep study) may be used to assess for obstructive sleep apnea, airway obstruction, airway resistance, severe desaturation, sleep disordered breathing, and snoring. Am J Med Genet A. 2022 The Childrens Hospital of Philadelphia. Wilms tumour in Beckwith-Wiedemann Syndrome and loss of methylation at imprinting centre 2: revisiting tumour surveillance guidelines Systemic chemotherapy for advanced non-small cell lung cancer. Email: [emailprotected], Some current clinical trials also are posted on the following page on the NORD website: In some children with BWS, parts of the body, such as the ears, may grow abnormally large, leading to an asymmetric or . Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. Clipboard, Search History, and several other advanced features are temporarily unavailable. Feeding difficulties caused by macroglossia may require the support of feeding specialists or dieticians. Epub 2010 Jul 8. The severity of this disorder varies widely in children and is usually recognized at birth, when a child is born with several features of Beckwith-Wiedemann syndrome. Beckwith-Wiedemann syndrome (BWS) is a growth regulation disorder. Front Pediatr. Beckwith-Wiedemann Syndrome. Children with Beckwith-Wiedemann syndrome and isolated hemihypertrophy are at an increased risk of developing certain cancers during childhood. Late-onset complications with BWS may require continued follow-up in adulthood. Unable to load your collection due to an error, Unable to load your delegates due to an error. MeSH Growth begins to slow by about age 8, and adults with this condition are not unusually tall. 2013 May;163C(2):131-40. doi: Nomenclature and definition in asymmetric regional body overgrowth. Associated features include above-average birth weight (large for . More research is needed to understand the features and associated treatments for adults with BWS. Children with this syndrome tend to be significantly larger than average (macrosomia). (1995) demonstrated that the CDKN1C gene is located on chromosome 11p15.5, a region implicated in both sporadic cancers and Beckwith-Wiedemann syndrome, a familial cancer syndrome, making it a tumor suppressor candidate. Summary Is a 160 gene panel that includes assessment of non-coding variants. 2022 Jul 13;12(7):1709. doi: 10.3390/diagnostics12071709. Familial transmission (inherited forms) occurs in about 5-10% of patients with BWS. What does it mean if a disorder seems to run in my family? UPD occurs when a person receives both copies of a chromosome (or part of a chromosome) from one parent instead of receiving one copy from each parent. Additional screening by urine analysis for neuroblastoma is recommended for patients with CDKN1C mutations. They typically have normal intelligence and normal lifespans. The whole range of physical features associated with Beckwith-Wiedemann syndrome are part of the 11p overgrowth spectrum. Prenatal assessment of gestational age, date of delivery, and fetal weight. The majority of these sporadic cases are associated with genetic abnormalities on a region of chromosome 11. Objective: To compare tumor risk in the 4 Beckwith-Wiedemann syndrome (BWS) molecular subgroups: Imprinting Control Region 1 Gain of Methylation (ICR1-GoM), Imprinting Control Region 2 Loss of Methylation (ICR2-LoM), Chromosome 11p15 Paternal Uniparental Disomy (UPD), and Cyclin-Dependent Kinase Inhibitor 1C gene (CDKN1C) mutation. There have been recent discussions regarding the utility of AFP screening in young children. A total of four or more points, two of which should be due to a cardinal feature, is consistent with a clinical diagnosis of BWS. There can be differences in this expression as well from person to person, including both copies being expressed or neither copy is expressed. Eur J Hum Genet. Mussa A. and Ferrero GB. [The Wiedemann-Beckwith syndrome and a congenital cataract]. Genetic testing also may help to determine whether, and how, these disorders occur within a family, which would provide information about the chance for recurrence in other children. 2010 Jan;18(1):8-14. doi: 10.1038/ejhg.2009.106. Beckwith-Wiedemann syndrome (BWS) is a rare disorder present at birth that causes overgrowth in children. The 10% to 15% of BWS that is inherited follows an autosomal dominant inheritance pattern. It's important to be diagnosed early since children born with the condition are more likely to develop tumors that could be cancerous. Less severe abdominal defects can include protrusion of part of the intestines through an abnormal opening in the muscular wall of the abdomen near the umbilical cord (umbilical hernia), or weakness and separation of the left and right muscles of the abdominal wall (diastasis recti). Colket Translational Research Building, Rm 3028 The genetic causes of Beckwith-Wiedemann syndrome are complex. HHS Vulnerability Disclosure, Help Hennekam RCM, Krantz I, Allanson, J. Eds. Thirty-eight patients were investigated to determine clinical and/or biological signs associated with a tumor presence. Due to the mosaic nature of BWS, some patients have eyes with multiple colors. This syndrome is characterized by macroglossia, omphalocele, organomegaly, genitourinary anomalies, and increased risk of abdominal tumors.