A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
Genetically and clinically heterogeneous disorder characterized by low birth weight, postnatal growth retardation, facial dysmorphism, bilateral body asymmetry, and clinodactyly of the fifth fingers. Alterations in GENETIC IMPRINTING are involved. Hypomethylation of IGF2/H19 locus near an imprinting center region of chromosome 11p15 plays a role in a subset of Silver-Russell syndrome. Hypermethylation of the same chromosomal region, on the other hand, can cause BECKWITH-WIEDEMANN SYNDROME. Maternal UNIPARENTAL DISOMY for chromosome 7 is known to play a role in its etiology.
Compounds that cause reproductive sterility in organisms. They are sometimes used to control pest populations by sterilizing males within the population.
A large family of fruit flies in the order DIPTERA, comprising over 4,500 species in about 100 genera. They have patterned wings and brightly colored bodies and are found predominantly in the tropical latitudes.
An order of the class Insecta. Wings, when present, number two and distinguish Diptera from other so-called flies, while the halteres, or reduced hindwings, separate Diptera from other insects with one pair of wings. The order includes the families Calliphoridae, Oestridae, Phoridae, SARCOPHAGIDAE, Scatophagidae, Sciaridae, SIMULIIDAE, Tabanidae, Therevidae, Trypetidae, CERATOPOGONIDAE; CHIRONOMIDAE; CULICIDAE; DROSOPHILIDAE; GLOSSINIDAE; MUSCIDAE; TEPHRITIDAE; and PSYCHODIDAE. The larval form of Diptera species are called maggots (see LARVA).
A species of fruit fly originating in sub-Saharan Africa but widely distributed worldwide. One of the most destructive fruit pests, its larvae feed and develop on many different fruits and some vegetables.
Unsaturated azacyclopropane compounds that are three-membered heterocycles of a nitrogen and two carbon atoms.
A genus of mosquitoes (CULICIDAE) commonly found in tropical regions. Species of this genus are vectors for ST. LOUIS ENCEPHALITIS as well as many other diseases of man and domestic and wild animals.
A family of the order DIPTERA with over 700 species. Important species that may be mechanical vectors of disease include Musca domesticus (HOUSEFLIES), Musca autumnalis (face fly), Stomoxys calcitrans (stable fly), Haematobia irritans (horn fly) and Fannia spp.
A characteristic symptom complex.
An inactive stage between the larval and adult stages in the life cycle of insects.
Wormlike or grublike stage, following the egg in the life cycle of insects, worms, and other metamorphosing animals.
Use of naturally-occuring or genetically-engineered organisms to reduce or eliminate populations of pests.

Genomic imprinting: implications for human disease. (1/164)

Genomic imprinting refers to an epigenetic marking of genes that results in monoallelic expression. This parent-of-origin dependent phenomenon is a notable exception to the laws of Mendelian genetics. Imprinted genes are intricately involved in fetal and behavioral development. Consequently, abnormal expression of these genes results in numerous human genetic disorders including carcinogenesis. This paper reviews genomic imprinting and its role in human disease. Additional information about imprinted genes can be found on the Genomic Imprinting Website at http://www.geneimprint.com.  (+info)

Loss of imprinting of a paternally expressed transcript, with antisense orientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and is independent of insulin-like growth factor II imprinting. (2/164)

Genomic imprinting plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndrome (BWS), a disorder of prenatal overgrowth and predisposition to embryonal malignancies such as Wilms tumor. We have previously shown that the KVLQT1 gene on chromosomal band 11p15 is imprinted, with expression of the maternal allele, and that the maternal allele is disrupted in rare BWS patients with balanced germ-line chromosomal rearrangements. We now show that an antisense orientation transcript within KVLQT1, termed LIT1 (long QT intronic transcript 1) is expressed normally from the paternal allele, from which KVLQT1 transcription is silent, and that in the majority of patients with BWS, LIT1 is abnormally expressed from both the paternal and maternal alleles. Eight of sixteen informative BWS patients (50%) showed biallelic expression, i.e., loss of imprinting (LOI) of LIT1. Similarly, 21 of 36 (58%) BWS patients showed loss of maternal allele-specific methylation of a CpG island upstream of LIT1. Surprisingly, LOI of LIT1 was not linked to LOI of insulin-like growth factor II (IGF2), which was found in 2 of 10 (20%) BWS patients, even though LOI of IGF2 occurs frequently in Wilms and other tumors, and in some patients with BWS. Thus, LOI of LIT1 is the most common genetic alteration in BWS. We propose that 11p15 harbors two imprinted gene domains-a more centromeric domain including KVLQT1 and p57(KIP2), alterations in which are more common in BWS, and a more telomeric domain including IGF2, alterations in which are more common in cancer.  (+info)

Anesthetic considerations of two sisters with Beckwith-Wiedemann syndrome. (3/164)

Anesthetic considerations of 21-mo-old and 4-yr-old sisters with Beckwith-Wiedemann syndrome during surgical repair of cleft palate and reduction of macroglossia are presented and discussed. This syndrome is characterized by exomphalos, macroglossia, gigantism, hypoglycemia in infancy, and many other clinical features. This syndrome is also known as exomphalos, macroglossia, and gigantism (EMG) syndrome. Principal problems associated with anesthetic management in this syndrome are hypoglycemia and macroglossia. Careful intraoperative plasma glucose monitoring is particularly important to prevent the neurologic sequelae of unrecognized hypoglycemia. It is expected that airway management would be complicated by the macroglossia, which might cause difficult bag/mask ventilation and endotracheal intubation following the induction of anesthesia and muscle paralysis, so preparations for airway difficulty (e.g., awake vocal cord inspection) should be considered before induction. A nasopharyngeal airway is useful in relieving postoperative airway obstruction.  (+info)

LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids. (4/164)

Mammalian imprinted genes are frequently arranged in clusters on particular chromosomes. The imprinting cluster on human chromosome 11p15 is associated with Beckwith-Wiedemann syndrome (BWS) and a variety of human cancers. To clarify the genomic organization of the imprinted cluster, an extensive screen for differentially expressed transcripts in the 11p15 region was performed using monochromosomal hybrids with a paternal or maternal human chromosome 11. Here we describe an imprinted antisense transcript identified within the KvLQT1 locus, which is associated with multiple balanced chromosomal rearrangements in BWS and an additional breakpoint in embryonal rhabdoid tumors. The transcript, called LIT1 (long QT intronic transcript 1), was expressed preferentially from the paternal allele and produced in most human tissues. Methylation analysis revealed that an intronic CpG island was specifically methylated on the silent maternal allele and that four of 13 BWS patients showed complete loss of maternal methylation at the CpG island, suggesting that antisense regulation is involved in the development of human disease. In addition, we found that eight of eight Wilms' tumors exhibited normal imprinting of LIT1 and five of five tumors displayed normal differential methylation at the intronic CpG island. This contrasts with five of six tumors showing loss of imprinting of IGF2. We conclude that the imprinted gene domain at the KvLQT1 locus is discordantly regulated in cancer from the imprinted domain at the IGF2 locus. Thus, this positional approach using human monochromosomal hybrids could contribute to the efficient identification of imprinted loci in humans.  (+info)

A maternally methylated CpG island in KvLQT1 is associated with an antisense paternal transcript and loss of imprinting in Beckwith-Wiedemann syndrome. (5/164)

Loss of imprinting at IGF2, generally through an H19-independent mechanism, is associated with a large percentage of patients with the overgrowth and cancer predisposition condition Beckwith-Wiedemann syndrome (BWS). Imprinting control elements are proposed to exist within the KvLQT1 locus, because multiple BWS-associated chromosome rearrangements disrupt this gene. We have identified an evolutionarily conserved, maternally methylated CpG island (KvDMR1) in an intron of the KvLQT1 gene. Among 12 cases of BWS with normal H19 methylation, 5 showed demethylation of KvDMR1 in fibroblast or lymphocyte DNA; whereas, in 4 cases of BWS with H19 hypermethylation, methylation at KvDMRl was normal. Thus, inactivation of H19 and hypomethylation at KvDMR1 (or an associated phenomenon) represent distinct epigenetic anomalies associated with biallelic expression of IGF2. Reverse transcription-PCR analysis of the human and syntenic mouse loci identified the presence of a KvDMR1-associated RNA transcribed exclusively from the paternal allele and in the opposite orientation with respect to the maternally expressed KvLQT1 gene. We propose that KvDMR1 and/or its associated antisense RNA (KvLQT1-AS) represents an additional imprinting control element or center in the human 11p15.5 and mouse distal 7 imprinted domains.  (+info)

Glypican-3-deficient mice exhibit developmental overgrowth and some of the abnormalities typical of Simpson-Golabi-Behmel syndrome. (6/164)

Glypicans are a family of heparan sulfate proteoglycans that are linked to the cell surface through a glycosyl-phosphatidylinositol anchor. One member of this family, glypican-3 (Gpc3), is mutated in patients with the Simpson-Golabi-Behmel syndrome (SGBS). These patients display pre- and postnatal overgrowth, and a varying range of dysmorphisms. The clinical features of SGBS are very similar to the more extensively studied Beckwith-Wiedemann syndrome (BWS). Since BWS has been associated with biallelic expression of insulin-like growth factor II (IGF-II), it has been proposed that GPC3 is a negative regulator of IGF-II. However, there is still no biochemical evidence indicating that GPC3 plays such a role.Here, we report that GPC3-deficient mice exhibit several of the clinical features observed in SGBS patients, including developmental overgrowth, perinatal death, cystic and dyplastic kidneys, and abnormal lung development. A proportion of the mutant mice also display mandibular hypoplasia and an imperforate vagina. In the particular case of the kidney, we demonstrate that there is an early and persistent developmental abnormality of the ureteric bud/collecting system due to increased proliferation of cells in this tissue element. The degree of developmental overgrowth of the GPC3-deficient mice is similar to that of mice deficient in IGF receptor type 2 (IGF2R), a well characterized negative regulator of IGF-II. Unlike the IGF2R-deficient mice, however, the levels of IGF-II in GPC3 knockouts are similar to those of the normal littermates.  (+info)

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. (7/164)

Beckwith-Wiedemann syndrome (BWS) is a human imprinting disorder with a variable phenotype. The major features are anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumours. BWS is genetically heterogeneous and epigenetic changes in the IGF2/H19 genes resulting in overexpression of IGF2 have been implicated in many cases. Recently germline mutations in the cyclin dependent kinase inhibitor gene CDKN1C (p57KIP2) have been reported in a variable minority of BWS patients. We have investigated a large series of familial and sporadic BWS patients for evidence of CDKN1C mutations by direct gene sequencing. A total of 70 patients with classical BWS were investigated; 54 were sporadic with no evidence of UPD and 16 were familial from seven kindreds. Novel germline CDKN1C mutations were identified in five probands, 3/7 (43%) familial cases and 2/54 (4%) sporadic cases. There was no association between germline CDKN1C mutations and IGF2 or H19 epigenotype abnormalities. The clinical phenotype of 13 BWS patients with germline CDKN1C mutations was compared to that of BWS patients with other defined types of molecular pathology. This showed a significantly higher frequency of exomphalos in the CDKN1C mutation cases (11/13) than in patients with an imprinting centre defect (associated with biallelic IGF2 expression and H19 silencing) (0/5, p<0.005) or patients with uniparental disomy (0/9, p<0.005). However, there was no association between germline CDKN1C mutations and risk of embryonal tumours. No CDKN1C mutations were identified in six non-BWS patients with overgrowth and Wilms tumour. These findings (1) show that germline CDKN1C mutations are a frequent cause of familial but not sporadic BWS, (2) suggest that CDKN1C mutations probably cause BWS independently of changes in IGF2/H19 imprinting, (3) provide evidence that aspects of the BWS phenotype may be correlated with the involvement of specific imprinted genes, and (4) link genotype-phenotype relationships in BWS and the results of murine experimental models of BWS.  (+info)

CDKN1C expression in Beckwith-Wiedemann syndrome patients with allele imbalance. (8/164)

In this study, we have examined CDKN1C expression in BWS patients with allele imbalance (AI) affecting the 11p15 region. Two of two informative patients with AI, attributable to mosaic paternal isodisomy, exhibited reduced levels of CDKN1C expression in the liver and kidney, respectively, relative to expression levels in the equivalent tissues in normal controls. Although overall expression was reduced, some expression from the paternally derived CDKN1C allele was evident, consistent with incomplete paternal imprinting of the gene. One patient showed evidence of maternal allele silencing in addition to AI. These findings show for the first time that CDKN1C expression is reduced in BWS patients with AI and suggest that CDKN1C haploinsufficiency contributes to the BWS phenotype in patients with mosaic paternal isodisomies of chromosome 11.  (+info)

Beckwith-Wiedemann syndrome (BWS) is a genetic overgrowth disorder that affects several parts of the body. It is characterized by an increased risk of developing certain tumors, especially during the first few years of life. The symptoms and features of BWS can vary widely among affected individuals.

The medical definition of Beckwith-Wiedemann syndrome includes the following major criteria:

1. Excessive growth before birth (macrosomia) or in infancy (infantile gigantism)
2. Enlargement of the tongue (macroglossia)
3. Abdominal wall defects, such as an omphalocele (protrusion of abdominal organs through the belly button) or a diastasis recti (separation of the abdominal muscles)
4. Enlargement of specific internal organs, like the kidneys, liver, or pancreas
5. A distinctive facial appearance, which may include ear creases or pits, wide-set eyes, and a prominent jaw

Additional findings in BWS can include:

1. Increased risk of developing embryonal tumors, such as Wilms tumor (a type of kidney cancer), hepatoblastoma (a liver cancer), and neuroblastoma (a nerve tissue cancer)
2. Hypoglycemia (low blood sugar) in infancy due to hyperinsulinism (overproduction of insulin)
3. Asymmetric growth, where one side of the body or a specific region is significantly larger than the other
4. Ear abnormalities, such as cupped ears or low-set ears
5. Developmental delays and learning disabilities in some cases

Beckwith-Wiedemann syndrome is caused by changes in the chromosome 11p15 region, which contains several genes that regulate growth and development. The most common cause of BWS is an epigenetic abnormality called paternal uniparental disomy (UPD), where both copies of this region come from the father instead of one copy from each parent. Other genetic mechanisms, such as mutations in specific genes or imprinting center defects, can also lead to BWS.

The diagnosis of Beckwith-Wiedemann syndrome is typically based on clinical findings and confirmed by molecular testing. Management includes regular monitoring for tumor development, controlling hypoglycemia, and addressing any other complications as needed. Surgical intervention may be required in cases of organ enlargement or structural abnormalities. Genetic counseling is recommended for affected individuals and their families to discuss the risks of recurrence and available reproductive options.

Silver-Russell Syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation, relative macrocephaly at birth with subsequent normalization of head circumference, a prominent forehead (frontal bossing), a small jaw (micrognathia), body asymmetry, and feeding difficulties in early life. Some individuals may also have clinodactyly (curving of the fifth finger towards the fourth), wide-spaced fifth fingers, and downturned corners of the mouth.

The genetic basis for SRS is heterogeneous, but the most common genetic abnormality associated with this syndrome is hypomethylation of the H19/IGF2:IG-DMR (imprinting control region) on chromosome 11p15.5. This region regulates the expression of two neighboring genes, IGF2 and H19, which are imprinted and expressed in a parent-of-origin-specific manner. In SRS, the hypomethylation leads to decreased IGF2 expression and increased H19 expression, which is thought to contribute to the growth retardation observed in this syndrome.

Individuals with SRS may have developmental delays, learning disabilities, and behavioral problems, although their cognitive abilities can range from normal to mildly impaired. They are also at an increased risk of developing certain medical conditions, such as low blood sugar (hypoglycemia), heart defects, kidney abnormalities, and a higher risk of childhood cancer, particularly Wilms' tumor.

Diagnosis of SRS is typically based on clinical criteria, including growth parameters, physical features, and developmental history. Genetic testing for hypomethylation at the H19/IGF2:IG-DMR region can confirm the diagnosis in many cases. Management of SRS involves a multidisciplinary approach, with interventions focused on addressing specific symptoms and promoting optimal growth and development.

Chemosterilants are chemical agents that are used to sterilize or inhibit the reproduction of insects and other pests. These chemicals work by interfering with the normal functioning of the reproductive system, either by preventing the formation or maturation of gametes (sex cells) or by preventing the successful fertilization and development of offspring.

Chemosterilants are often used in public health programs to control the spread of disease-carrying insects, such as mosquitoes and ticks. They can also be used in agricultural settings to manage pests that damage crops or stored food products.

Some common chemosterilants include:

* Aziridines: These are a group of chemicals that work by alkylating (adding an alkyl group to) the DNA of cells, which can prevent them from dividing and reproducing. Aziridines are often used to sterilize male insects.
* Dinitrophenols: These chemicals disrupt the energy production in cells, which can lead to sterility or death. Dinitrophenols are sometimes used to sterilize female insects.
* Spinosad: This is a natural compound produced by a soil bacterium that acts as a neurotoxin to insects. It can be used to control a wide range of pests, including flies, mosquitoes, and moths.

It's important to note that chemosterilants are not typically used in medical treatments for humans or other animals. They are primarily used as tools for controlling pest populations in public health and agricultural settings.

Tephritidae is a family of flies commonly known as "fruit flies" or "vinegar flies." The term "Tephritidae" is derived from the Greek word "tephra," which means "ash," likely referring to the often gray or sooty coloration of some members of this family.

Tephritidae includes over 4,000 species worldwide, many of which are important agricultural pests. These flies are known for their habit of laying eggs in or on fruits and vegetables, leading to the development of larvae that feed on the plant tissue and cause damage. Some well-known examples of Tephritidae include the Mediterranean fruit fly (Ceratitis capitata) and the apple maggot (Rhagoletis pomonella).

It is worth noting that "fruit flies" is also a common name for Drosophilidae, another family of small flies. While both families are sometimes referred to as "fruit flies," Tephritidae species tend to be larger and more brightly colored than Drosophilidae species.

Diptera is an order of insects that includes flies, mosquitoes, and gnats. The name "Diptera" comes from the Greek words "di," meaning two, and "pteron," meaning wing. This refers to the fact that all members of this order have a single pair of functional wings for flying, while the other pair is reduced to small knob-like structures called halteres, which help with balance and maneuverability during flight.

Some common examples of Diptera include houseflies, fruit flies, horseflies, tsetse flies, and midges. Many species in this order are important pollinators, while others can be significant pests or disease vectors. The study of Diptera is called dipterology.

'Ceratitis capitata' is the scientific name for the Mediterranean fruit fly, also known as medfly. It is a significant agricultural pest that can cause extensive damage to various fruits and vegetables. The larvae of this fly feed on the pulp of ripening or damaged fruits and vegetables, making them unfit for consumption and causing economic losses to farmers and growers.

The adult Mediterranean fruit flies are small, about 3-5 millimeters in length, with a yellowish-brown body and dark markings on their abdomen. They have a characteristic V-shaped pattern on their face, which is one way to distinguish them from other fruit fly species. The females lay their eggs under the skin of host fruits or vegetables, and the larvae hatch and begin feeding on the fruit's interior.

The Mediterranean fruit fly has a wide range, found in many parts of the world, including Africa, the Middle East, Southern Europe, South America, Central America, and some regions of the United States. To control medfly infestations, various methods are used, such as pesticide applications, biological control agents, sterile insect technique (SIT), and fruit fly traps.

Azirines are a class of heterocyclic organic compounds that contain a three-membered ring consisting of two carbon atoms and one nitrogen atom. The structure of azirines can be represented by the chemical formula C2H2NR, where R is a hydrogen atom or a functional group.

Azirines are highly strained molecules due to the small size of the ring, which makes them reactive and useful in organic synthesis. They can undergo various reactions, such as cycloaddition, to form larger and more complex molecules. Azirines have been found to exhibit biological activity and are being investigated for their potential use in medicinal chemistry.

It is important to note that azirines are not a medical term per se, but rather a chemical term used to describe a specific class of organic compounds.

'Culex' is a genus of mosquitoes that includes many species that are vectors for various diseases, such as West Nile virus, filariasis, and avian malaria. They are often referred to as "house mosquitoes" because they are commonly found in urban environments. These mosquitoes typically lay their eggs in standing water and have a cosmopolitan distribution, being found on all continents except Antarctica. The life cycle of Culex mosquitoes includes four stages: egg, larva, pupa, and adult. Both male and female adults feed on nectar, but only females require blood meals to lay eggs.

I apologize for any confusion, but "Muscidae" is not a medical term. It is a taxonomic family of flies, also known as houseflies or muscoid flies. The Muscidae family includes over 4,000 species, some of which can be found in various environments, including human dwellings and agricultural settings. Some members of this family are considered pests due to their habits of feeding on decaying organic matter, transmitting diseases, or contaminating food sources.

A syndrome, in medical terms, is a set of symptoms that collectively indicate or characterize a disease, disorder, or underlying pathological process. It's essentially a collection of signs and/or symptoms that frequently occur together and can suggest a particular cause or condition, even though the exact physiological mechanisms might not be fully understood.

For example, Down syndrome is characterized by specific physical features, cognitive delays, and other developmental issues resulting from an extra copy of chromosome 21. Similarly, metabolic syndromes like diabetes mellitus type 2 involve a group of risk factors such as obesity, high blood pressure, high blood sugar, and abnormal cholesterol or triglyceride levels that collectively increase the risk of heart disease, stroke, and diabetes.

It's important to note that a syndrome is not a specific diagnosis; rather, it's a pattern of symptoms that can help guide further diagnostic evaluation and management.

I must clarify that the term 'pupa' is not typically used in medical contexts. Instead, it is a term from the field of biology, particularly entomology, which is the study of insects.

In insect development, a pupa refers to a stage in the life cycle of certain insects undergoing complete metamorphosis. During this phase, the larval body undergoes significant transformation and reorganization within a protective casing called a chrysalis (in butterflies and moths) or a cocoon (in other insects). The old larval tissues are broken down and replaced with new adult structures. Once this process is complete, the pupal case opens, and the adult insect emerges.

Since 'pupa' is not a medical term, I couldn't provide a medical definition for it. However, I hope this explanation helps clarify its meaning in the context of biology.

A larva is a distinct stage in the life cycle of various insects, mites, and other arthropods during which they undergo significant metamorphosis before becoming adults. In a medical context, larvae are known for their role in certain parasitic infections. Specifically, some helminth (parasitic worm) species use larval forms to infect human hosts. These invasions may lead to conditions such as cutaneous larva migrans, visceral larva migrans, or gnathostomiasis, depending on the specific parasite involved and the location of the infection within the body.

The larval stage is characterized by its markedly different morphology and behavior compared to the adult form. Larvae often have a distinct appearance, featuring unsegmented bodies, simple sense organs, and undeveloped digestive systems. They are typically adapted for a specific mode of life, such as free-living or parasitic existence, and rely on external sources of nutrition for their development.

In the context of helminth infections, larvae may be transmitted to humans through various routes, including ingestion of contaminated food or water, direct skin contact with infective stages, or transmission via an intermediate host (such as a vector). Once inside the human body, these parasitic larvae can cause tissue damage and provoke immune responses, leading to the clinical manifestations of disease.

It is essential to distinguish between the medical definition of 'larva' and its broader usage in biology and zoology. In those fields, 'larva' refers to any juvenile form that undergoes metamorphosis before reaching adulthood, regardless of whether it is parasitic or not.

Biological pest control, also known as biocontrol, is a method of managing or eliminating pests such as insects, mites, weeds, and plant diseases using natural enemies or other organisms. These biological control agents include predators, parasites, pathogens, and competitors that regulate pest populations and reduce the need for chemical pesticides. Biological pest control is a key component of integrated pest management (IPM) programs and has minimal impact on the environment compared to traditional pest control methods.

... this syndrome over time became known as Beckwith-Wiedemann syndrome or Wiedemann Beckwith syndrome.[citation needed] Originally ... "John Bruce Beckwith". www.whonamedit.com. GeneReview/UW/NIH entry on Beckwith-Wiedemann syndrome (CS1 French-language sources ( ... this constellation was renamed Beckwith-Wiedemann syndrome following the autoptical observations of Prof. John Bruce Beckwith ( ... Beckwith-Wiedemann syndrome has an estimated incidence of one in 13,700; about 300 children with BWS are born each year in the ...
Shuman C, Beckwith JB, Weksberg R (11 August 2016). "Beckwith-Wiedemann Syndrome". In Adam MP, Ardinger HH, Pagon RA, Wallace ... For instance, Beckwith-Wiedemann syndrome is caused by increased effects of paternally imprinted genes and has an increased ... with trisomy X and Klinefelter syndrome (extra X chromosomes) increasing schizophrenia risk and Turner syndrome (one X ... Genetic syndromes in general lend credence to the suggestion that autism and schizophrenia are related rather than ...
Beckwith-Wiedemann syndrome, Sotos syndrome, Perlman syndrome, Simpson-Golabi-Behmel syndrome) are often characterized by ... "Beckwith-Wiedemann syndrome". Genetics Home Reference. Retrieved 2020-07-30. Vora N, Bianchi DW (October 2009). "Genetic ... considerations in the prenatal diagnosis of overgrowth syndromes". Prenatal Diagnosis. 29 (10): 923-9. doi:10.1002/pd.2319. PMC ...
Beckwith-Wiedemann syndrome is a rare hereditary condition, which may include other defects such as omphalocele, visceromegaly ... Beckwith-Wiedemann syndrome or hemihyperplasia). Enlargement due to lymphangioma gives the tongue a pebbly appearance with ... "Treatment of macroglossia in a child with Beckwith-Wiedemann syndrome". Journal of Oral and Maxillofacial Surgery. 58 (9): 1058 ... of all patients with macroglossia may involve abdominal ultrasound and molecular studies for Beckwith-Wiedemann syndrome. The ...
GeneReviews/NIH/NCBI/UW entry on Beckwith-Wiedemann Syndrome CDKN1C human gene location in the UCSC Genome Browser. CDKN1C ... Mutations of CDKN1C are implicated in sporadic cancers and Beckwith-Wiedemann syndrome suggesting that it is a tumor suppressor ... p57KIP2 has been associated with Beckwith-Wiedemann syndrome (BWS) which is characterized by increased risk of tumor formation ... September 2015). "Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith-Wiedemann Syndrome: Clinical ...
Beckwith-Wiedemann syndrome (BWS), an overgrowth syndrome is a well-recognized form of syndromic HI. Other syndromes that ... "Diagnosis and Management of Beckwith-Wiedemann Syndrome". Frontiers in Pediatrics. 7: 562. doi:10.3389/fped.2019.00562. ISSN ... screening and management of Beckwith-Wiedemann syndrome: an international consensus statement". Nature Reviews Endocrinology. ... beta cell dysregulation syndrome or dysmaturation syndrome in the 1980s, and persistent hyperinsulinemic hypoglycemia of ...
Moore, E. S; Ward, R. E; Escobar, L. F; Carlin, M. E (2000). "Heterogeneity in Wiedemann-Beckwith syndrome: Anthropometric ... "Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations ... "Human KVLQT1 gene shows tissue-specific imprinting and encompasses Beckwith-Wiedemann syndrome chromosomal rearrangements". ... "Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: One clinical entity?". BMC Medical Genetics. 17 (1): 42. doi:10.1186/ ...
In fact, three out of four patients with Beckwith-Wiedemann Syndrome and Wilms' tumor had UPD. When KCNQ1OT1 transcript is ... Long noncoding RNA Beckwith-Wiedemann syndrome GRCh38: Ensembl release 89: ENSG00000269821 - Ensembl, May 2017 "Human PubMed ... The loss of the maternal methylation of the KCNQ1OT1 allele is most commonly associated with Beckwith-Wiedemann syndrome. The ... DeBaun MR, Niemitz EL, Feinberg AP (January 2003). "Association of in vitro fertilization with Beckwith-Wiedemann syndrome and ...
Broekman, Marike; Hoving, Eelco (2008). ""Nasal encephalocele in a child with Beckwith-Wiedemann syndrome"". Journal of ... There are also several syndromes such as Meckel syndrome, and triploid syndrome which are frequently accompanied by neural tube ... and their impact on detection and termination rates for neural tube defects and Down's syndrome". BJOG: An International ...
Beckwith-Wiedemann syndrome, Costello syndrome, Noonan syndrome, and DICER1 syndrome. There are multiple genetic lesions ... Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, ... "Association of alveolar rhabdomyosarcoma with the Beckwith-Wiedemann syndrome". Pediatric and Developmental Pathology. 4 (6): ... Risk factors that increase the likelihood of this cancer include inherited disorders such as Li-Fraumeni syndrome, ...
... shares clinical overlaps with other overgrowth disorders, with similarities to Beckwith-Wiedemann syndrome and ... Beckwith-Wiedemann syndrome Multiple abnormalities Renal cell carcinoma "Perlman syndrome". Orphanet. May 2008. Retrieved 2010- ... Similarities with Beckwith-Wiedemann syndrome include polyhydramnios, macrosomia, nephromegaly and hypoglycaemia. It is the ... Rare syndromes, Syndromes affecting head size, Syndromes with craniofacial abnormalities, Syndromes with tumors). ...
Beckwith-Wiedemann syndrome Perlman syndrome Proteus syndrome Gigantism "Exploring Autism". www.exploringautism.org. Archived ... Syndromes, Rare diseases, Genetic syndromes, Syndromes affecting the nervous system). ... There is no standard course of treatment for Sotos syndrome.[citation needed] Sotos syndrome is not a life-threatening disorder ... It is similar to Weaver syndrome. This syndrome is characterized by overgrowth and advanced bone age. Affected individuals have ...
Drash first described the syndrome. Beckwith-Wiedemann syndrome WAGR syndrome Wilms' tumor "Denys-Drash syndrome". Genetic and ... Denys-Drash syndrome (DDS) or Drash syndrome is a rare disorder or syndrome characterized by gonadal dysgenesis, nephropathy, ... Males with Denys-Drash syndrome exhibit gonadal dysgenesis and undescended testes. Females with Denys-Drash syndrome typically ... Syndromes affecting the kidneys, Syndromes with tumors, Intersex variations). ...
... , Sotos syndrome, and Beckwith-Wiedemann syndrome". Taiwanese Journal of Obstetrics and ... SGBS is similar to another overgrowth syndrome called Beckwith-Wiedemann syndrome. SGBS Cells are a unique tool to study the ... Simpson-Golabi-Behmel syndrome at NIH's Office of Rare Diseases GeneReview/NCBI/NIH/UW entry on Simpson-Golabi-Behmel Syndrome ... The syndrome is inherited in an X-linked recessive manner. Females that possess one copy of the mutation are considered to be ...
John Bruce Beckwith (born 1933), American pathologist (see Beckwith-Wiedemann syndrome). Antonio di Paolo Benivieni (1443-1502 ... I. N. Dubin (born 1913), American pathologist (see Dubin-Johnson syndrome). Cuthbert Dukes (1890-1977), English physician and ... Hans Chiari (1851-1916), Austrian pathologist (see Arnold-Chiari malformation, Budd-Chiari syndrome). Jacob Churg (1910-2005), ... Lotte Strauss (1913-1985), American pathologist (see Churg-Strauss syndrome). Sunao Tawara (1873-1952), Japanese pathologist, ...
Microdeletions on the H19 ICR have been associated with Beckwith-Wiedemann syndrome. As a postdoc Bartolomei showed that DNA ... 1 June 2001). "Insulin resistance and a diabetes mellitus-like syndrome in mice lacking the protein kinase Akt2 (PKB beta)". ... developed by Tilghman and Bartolomei helped to identify that it was genetic mutations on H19 that cause Silver-Russell syndrome ...
Other conditions involving imprinting include Beckwith-Wiedemann syndrome, Silver-Russell syndrome, and ... Human diseases involving genomic imprinting include Angelman, Prader-Willi, and Beckwith-Wiedemann syndromes. Methylation ... Both syndromes are associated with loss of the chromosomal region 15q11-13 (band 11 of the long arm of chromosome 15). This ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ...
Beckwith-Wiedemann syndrome Perlman syndrome Sotos syndrome CRAWFORD, MARK W., and DENISE ROHAN. "The Upper Airway In Weaver ... "Weaver Syndrome: Seven New Cases and a Review of the Literature." In Congenital Malformation Syndromes. New York: Chapman and ... Weaver syndrome and Sotos syndrome are often mistaken for one another due to their significant phenotypic overlap and ... 2003). "NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other ...
This abnormal derepression and increase in gene expression can result in Beckwith-Wiedemann syndrome. Lewis, Mitchell (June ... The increased expression of these MeCP2 regulated genes in neurons contribute to the Rett syndrome phenotype. This syndrome is ... A common cause of this syndrome is a mutation in an imprint control region near the Igf2 gene. This imprint control region is ... Rett syndrome is a neurodevelopmental disorder involving deterioration of learned language and motor skills, autism, and ...
... is also a feature of neurofibromatosis type 1 and the Beckwith-Wiedemann syndrome. MYCN oncogene amplification ... Horner's syndrome (cervical tumor, 2.4% of cases), opsoclonus myoclonus syndrome and ataxia (suspected paraneoplastic cause, ... which results in the 1q21.1 deletion syndrome or 1q21.1 duplication syndrome. Several risk factors have been proposed and are ... ISBN 978-3-540-26616-7. Beckwith JB, Perrin EV (December 1963). "In Situ Neuroblastomas: A Contribution to the Natural History ...
Creased earlobes are sometimes associated with genetic disorders in children, including Beckwith-Wiedemann syndrome. In some ...
Hemihyperplasia is seen in several congenital syndromes including Beckwith-Wiedemann syndrome and Russell-Silver syndrome. ... a tumor screening protocol is recommended for all children with isolated hemihyperplasia and Beckwith-Wiedemann Syndrome. Some ... "Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins". Pediatrics. 12 (4): 368-76. ... of the other syndromes associated with hemihyperplasia may also follow this tumor-surveillance protocol. The recommended ...
Genetic disorders can cause a prominent occiput as found in Edwards syndrome, and Beckwith-Wiedemann syndrome. The ...
Loss of imprinting of IGF-2 is a common feature in tumors seen in Beckwith-Wiedemann syndrome. As IGF-2 promotes development of ... Doege-Potter syndrome is a paraneoplastic syndrome in which hypoglycemia is associated with the presence of one or more non- ... Doege-Potter syndrome: a case report". Journal of Thoracic Oncology. 1 (6): 588-90. doi:10.1097/01243894-200607000-00016. PMID ...
She has Beckwith-wiedemann syndrome meaning the left side of her body is shorter than her right. She also struggles to control ...
Alterations in this region have been associated with the Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, ... "Sequence conservation and variability of imprinting in the Beckwith-Wiedemann syndrome gene cluster in human and mouse". Hum. ...
... or Patau syndrome (trisomy 13). Beckwith-Wiedemann syndrome is also associated with omphaloceles.[citation needed] Exomphalos ... Other related syndromes are Shprintzen Goldberg, pentalogy of Cantrell, Beckwith-Wiedemann and OEIS complex (omphalocele, ... exstrophy of the bladder and Beckwith-Wiedemann syndrome. Approximately 15% of live-born infants with omphalocele have ... cause high levels of IGF-2 protein in humans which leads to exomphalos in the associated disease Beckwith Wiedemann syndrome ( ...
"Disruption of genomic neighbourhood at the imprinted IGF2-H19 locus in Beckwith-Wiedemann syndrome and Silver-Russell syndrome ... at an imprinted CTCF-binding site near IGF2/H19 form aberrant Insulated Neighborhoods and develop Beckwith-Wiedemann syndrome ( ... when both alleles have the paternal type of insulated neighborhood) or Silver-Russell syndrome (when both alleles have the ...
Increased risk for liver cancer in children can be caused by Beckwith-Wiedemann syndrome (associated with hepatoblastoma), ... "Risk of cancer during the first four years of life in children from The Beckwith-Wiedemann Syndrome Registry". The Journal of ... Within two years, there is a risk for cancer arising from these nodules of 30-40%. Obesity and metabolic syndrome have emerged ...
Other conditions, such as Beckwith-Wiedemann syndrome, are associated with abnormalities of imprinted genes on the short arm of ... Angelman Syndrome, Online Mendelian Inheritance in Man "OMIM Entry - # 608149 - KAGAMI-OGATA SYNDROME". omim.org. Retrieved 1 ... The most well-known conditions include Prader-Willi syndrome and Angelman syndrome. Both of these disorders can be caused by ... Duncan, Malcolm (1 September 2020). "Chromosome 14 uniparental disomy syndrome information Diseases Database". www. ...
... this syndrome over time became known as Beckwith-Wiedemann syndrome or Wiedemann Beckwith syndrome.[citation needed] Originally ... "John Bruce Beckwith". www.whonamedit.com. GeneReview/UW/NIH entry on Beckwith-Wiedemann syndrome (CS1 French-language sources ( ... this constellation was renamed Beckwith-Wiedemann syndrome following the autoptical observations of Prof. John Bruce Beckwith ( ... Beckwith-Wiedemann syndrome has an estimated incidence of one in 13,700; about 300 children with BWS are born each year in the ...
Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. Explore symptoms, inheritance, genetics of this ... medlineplus.gov/genetics/condition/beckwith-wiedemann-syndrome/ Beckwith-Wiedemann syndrome. ... Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. It is classified as an overgrowth syndrome, ... which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome.. Up to 6 percent of people with Beckwith- ...
Hans-Rudolf Wiedemann reported a familial form of omphalocele with macroglossia in Germany. In 1969, J. ... encoded search term (Beckwith-Wiedemann Syndrome) and Beckwith-Wiedemann Syndrome What to Read Next on Medscape ... Beckwith-Wiedemann Syndrome. Genetics Home Reference. Available at https://ghr.nlm.nih.gov/condition/beckwith-wiedemann- ... Beckwith-Wiedemann Syndrome. Updated: Apr 18, 2023 * Author: Jennifer M Kalish, MD, PhD; Chief Editor: Robert P Hoffman, MD ...
NSD1 does NOT cause Beckwith Wiedemann syndrome. Please include 15942875 Created: 30 May 2019, 4:59 p.m. ... NSD1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. Sources: Radboud University ... 5q35 recurrent (Sotos syndrome) region (includes NSD1) Loss. ISCA-37425-Loss 1 ... Beckwith-Wiedemann syndrome, 130650. * Sotos Syndrome. OMIM. 606681. Clinvar variants. Variants in NSD1 Penetrance. Complete. ...
Cystic Fibrosis and Beckwith-Wiedemann Syndrome: A Case Report ...
Beckwith-Wiedemann syndrome, chromosomal abnormalities, Denys-Drash syndrome, and Perlmann syndrome. Renal involvement is ... Meckel-Gruber syndrome, short rib-polydactyly syndrome, Beckwith-Wiedemann syndrome, and holoprosencephaly. ... How is Beckwith-Wiedemann syndrome differentiated from Wilms tumor on imaging?. What is WAGR syndrome (Wilms tumor, aniridia, ... For children with Beckwith-Wiedemann syndrome and hemihypertrophy, the adrenal glands and liver should be evaluated in addition ...
Beckwith-Wiedemann syndrome. Children with this syndrome tend to be much larger than what is typical, known as macrosomia. This ... Wilms tumor can occur as part of rare syndromes, including:. *WAGR syndrome. This syndrome includes Wilms tumor, aniridia, ... Denys-Drash syndrome. This syndrome includes Wilms tumor, kidney disease and male pseudohermaphroditism (soo-do-her-MAF-roe-dit ... syndrome might cause organs in the stomach area to jut into the base of the umbilical cord, a large tongue, large internal ...
Other conditions involving imprinting include Beckwith-Wiedemann syndrome, Silver-Russell syndrome, and ... Human diseases involving genomic imprinting include Angelman, Prader-Willi, and Beckwith-Wiedemann syndromes. Methylation ... Both syndromes are associated with loss of the chromosomal region 15q11-13 (band 11 of the long arm of chromosome 15). This ... The first imprinted genetic disorders to be described in humans were the reciprocally inherited Prader-Willi syndrome and ...
Cancer Risk and Incidence in Beckwith-Wiedemann Syndrome Childrens Hospital of Philadelphia / Jennifer Kalish, MD/PhD ...
Epigenetics and Chromatin Disorders Clinic: Kabuki syndrome, Sotos syndrome, Beckwith-Wiedemann syndrome and other overgrowth ... Cardiovascular Connective Tissue Disorder Clinic: Marfan syndrome, Loeys-Dietz syndrome, aortic root aneurysm and others ... Lysosomal Storage Disease Center: Gaucher, Fabry, Pompe, Niemann-Pick disease, Hunter syndrome, and other diseases that affect ... specializes in the diagnosis and management of children and young adults with inherited cancer predisposition syndromes. ...
Angelman syndrome, Beckwith-Wiedemann syndrome, Congenital hyperinsulinism, Genome-wide uniparental disomy, Mosaicism. in ... Angelman syndrome; Beckwith-Wiedemann syndrome; Congenital hyperinsulinism; Genome-wide uniparental disomy; Mosaicism}}, ... At two years age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular ... At two years age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular ...
In addition, numerous genetic diseases are associated with imprinting defects, including Beckwith-Wiedemann syndrome (BWS) and ... Beckwith-Wiedemann syndrome) (Bliek et al., 2001) and cancers (e.g. Wilms tumor) (Rancourt et al., 2013; Wu et al., 2008). ... such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS); and (4) imprinted states by prediction (P): the imprinting ... neural tube defects and Silver Russell syndrome (SRS). All the query results can be viewed by the Imprinted Gene Browser and ...
Beckwith-Wiedemann syndrome in sibs discordant for IC2 methylation. Am J Med Genet Part A. 158(7):1662-9, 2012. ... Inherited Long QT syndrome (LQTS), a potentially fatal condition, is recognized by a prolonged QT interval on an ... LQTS: Information pamphlet about Long QT syndrome in Northern BC. *List of Drugs to be Avoided by Patients with Congenital Long ... Maternal Child Health Newsletter - Sudden Infant Death Syndrome (SIDS). Publications. Lauson S, McIntosh S, Obed N, Healey G, ...
Beckwith-Wiedemann and otopalatodigital syndromes were ruled out via molecular analysis. When the patient was 4 years old, ... is a connective tissue disorder that must be included in the differential diagnosis of aortic syndromes such as Marfan syndrome ... Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases Síndrome de Shprintzen-Goldberg y dilatación aórtica ... In these syndromes, the surgical indication for aortic dilatation is clearly established. However, there are no clear ...
have a growth disorder called Beckwith-Wiedemann syndrome (which makes the body and internal organs grow too much or get too ...
Beckwith-Wiedemann and Silver-Russell syndromes: opposite developmental imbalances in imprinted regulators of placental ... Quantitative DNA methylation analysis improves epigenotype-phenotype correlations in Beckwith-Wiedemann syndrome. Calvello M, ... allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes. ...
... and Beckwith-Wiedemann syndrome (0.07 per 1000 live births). In Beckwith-Wiedemann syndrome, 97.5% of patients have ... Novel fetal and maternal sonographic findings in confirmed cases of Beckwith-Wiedemann syndrome. Prenat Diagn. 2015 Jan 6. [ ... Anesthetic management of tongue reduction in a case of Beckwith-Wiedemann syndrome. J Anaesthesiol Clin Pharmacol. 2014 Oct. 30 ... The Utility of Early Tongue Reduction Surgery for Macroglossia in Beckwith-Wiedemann Syndrome. Plast Reconstr Surg. 2020 Apr. ...
Down syndrome and Beckwith-Wiedemann syndrome.. Ventral hernias are caused by the protrusion through an old injury or incision ...
This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called ... Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. [ ...
Tags: Autism, Beckwith-Wiedemann Syndrome, Biologics Drug / Agent, Bipolar Disorder, Cancer, Cardiology, Diabetes, DNA, DNA ... but faulty epigenetics are already known to be at work in cancer and relatively rare Beckwith-Wiedemann syndrome, among others ...
CMC_Design/childrens/conditions/Neurofibromatosis NF,/CMC_Design/childrens/conditions/Beckwith Wiedemann Syndrome,/CMC_Design/ ... Cancer predisposition syndromes tend to run in families. Sometimes family members are aware, and other times they are not. Our ... Screening: Our team manages a schedule of screenings appropriate for each cancer predisposition syndrome - ultrasounds, MRIs, ... Genetics Counseling: We educate families on potential risks associated with certain cancer predisposition syndromes and options ...
Beckwith-Wiedemann Syndrome: Family Analysis The pedigree analysis of BWS in one family shows that this mutation seems to be ...
Wiedemann) or dwarfism (Silver Russell) syndromes, and also has a role in some kidney and liver cancers. ... If these genes are incorrectly imprinted, it can lead to the overgrowth (Beckwith-- ... Beckwith-Wiedemann) or dwarfism (Silver Russell) syndromes, and also has a role in some kidney and liver cancers. ... If these genes are incorrectly imprinted, it can lead to the overgrowth (Beckwith--Wiedemann) or dwarfism (Silver Russell) ...
Excess growth can occur as an isolated feature or as part of a multiple malformation syndrome. Frequently, overgrowth disorders ... There are currently no treatments for constitutional overgrowth syndromes. However, molecular diagnosis can provide valuable ... Overgrowth and macrocephaly syndromes constitute a heterogeneous group of developmental disorders that share growth excess as a ... Basal cell nevus syndrome 2. 620343. Beckwith-Wiedemann Syndrome. AD. 130650. Bladder Cancer. 109800. ...
Genomic imprinting plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndrome (BWS ... occurs frequently in Beckwith-Wiedemann syndrome and isindependent of insulin-like growth factor II imprinting.Proc Natl Acad ...
"Beckwith-Wiedemann Syndrome - Bilateral Wilms Tumor". *News *Events *Press Room *Careers *Contact Us ...
... and Beckwith-Wiedemann syndrome (in which islet cell hyperplasia accompanies features of macroglossia and umbilical hernia). ... withdrawal Opioids Alcohol and illicit drugs are toxic to the placenta and developing fetus and can cause congenital syndromes ...
A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome. 2002 Silengo M; Barberis L; Ferrero GB; ... A possible relationship between Beckwith-Wiedemann syndrome and prune belly syndrome.. 2002-01-01 Silengo M; Barberis L; ... Adult phenotype of Beckwith-Wiedemann syndrome 2019 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; ... Adult phenotype of Beckwith-Wiedemann syndrome. 2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa ...
  • It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood. (medlineplus.gov)
  • Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. (medlineplus.gov)
  • NSD1 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorderspanel. (genomicsengland.co.uk)
  • If these genes are incorrectly imprinted, it can lead to the overgrowth (Beckwith--Wiedemann) or dwarfism (Silver Russell) syndromes, and also has a role in some kidney and liver cancers. (sciencedaily.com)
  • Genomic imprinting plays a fundamental role in cancer and some hereditary diseases, including Beckwith-Wiedemann syndrome (BWS), a disorder of prenatal overgrowth and predisposition to embryonal malignancies such as Wilms tumor. (tcdb.org)
  • Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. (medlineplus.gov)
  • This syndrome includes Wilms tumor, aniridia, genital and urinary system problems, and intellectual disabilities. (mayoclinic.org)
  • This syndrome includes Wilms tumor, kidney disease and male pseudohermaphroditism (soo-do-her-MAF-roe-dit-iz-um). (mayoclinic.org)
  • Human diseases involving genomic imprinting include Angelman, Prader-Willi, and Beckwith-Wiedemann syndromes. (wikipedia.org)
  • This can lead to abnormal development, behavioral disorders, cancer and various disease syndromes, such as the behavioral and neurodevelopmental disorders Prader-Willi and Angelman syndromes. (sciencedaily.com)
  • and behavioural and psychomotor manifestations of Angelman Syndrome (pUPD15) on follow-up. (lu.se)
  • Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome. (medlineplus.gov)
  • Beckwith-Wiedemann syndrome is often associated with changes in regions of DNA on chromosome 11 called imprinting centers (ICs). (medlineplus.gov)
  • This gene is located within one of three regions on chromosome 11p15 associated with Beckwith-Wiedemann syndrome, called Beckwith-Wiedemann syndrome chromosome region-2 (BWSCR2), and is thought to play a role in the etiology of this disease. (nih.gov)
  • Relevant examples pertaining to congenital syndromes include relative macroglossia associated with micrognathia in Pierre Robin syndrome and hypotonia in Down syndrome. (medscape.com)
  • Although the exact incidence of macroglossia in the general population is unknown (because the etiologies are too numerous to quantify), the condition is found in some congenital syndromes, such as Down syndrome (1 per 700 live births) and Beckwith-Wiedemann syndrome (0.07 per 1000 live births). (medscape.com)
  • Beckwith-Wiedemann syndrome (BWS) is a pediatric cancer predisposition disorder that was first characterized by Dr J. Bruce Beckwith and Dr Hans-Rudolf Wiedemann in the early 1960s. (medscape.com)
  • Shprintzen-Goldberg syndrome (SGS) is a connective tissue disorder that must be included in the differential diagnosis of aortic syndromes such as Marfan syndrome (MS) and Loeys-Dietz syndrome (LDS). (revespcardiol.org)
  • In relative macroglossia, an individual has a normal-sized tongue that, as a result of oral or skeletal abnormalities, such as a narrow mandible (as found in many head and neck syndromes), seems unusually large. (medscape.com)
  • In Beckwith-Wiedemann syndrome, 97.5% of patients have macroglossia. (medscape.com)
  • A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. (unito.it)
  • A syndrome of multiple abnormalities characterized by the absence or hypoplasia of the PATELLA and congenital nail dystrophy. (bvsalud.org)
  • In Beckwith-Wiedemann syndrome, paternal UPD usually occurs early in embryonic development and affects only some of the body's cells. (medlineplus.gov)
  • Loss of imprinting of a paternally expressed transcript, with antisenseorientation to KVLQT1, occurs frequently in Beckwith-Wiedemann syndrome and isindependent of insulin-like growth factor II imprinting.Proc Natl Acad Sci U S A. 1999 Apr 27;96(9):5203-8. (tcdb.org)
  • Beckwith-Wiedemann Proteus Klippel-Trenaunay-Weber McCune-Albright syndrome Neurofibromatosis type 1). (globalgenes.org)
  • Our team manages a schedule of screenings appropriate for each cancer predisposition syndrome - ultrasounds, MRIs, blood tests, etc. - to monitor for early detection of tumors. (childrens.com)
  • 3-Methylglutaconic aciduria with normal hydratase (type 4 or special variants), 4a Costeff syndrome or Iraqi-Jewish disease, 4b variant with extrapyramidal signs. (neurometplus.com)
  • This syndrome might cause organs in the stomach area to jut into the base of the umbilical cord, a large tongue, large internal organs and ears that are formed unusually. (mayoclinic.org)
  • How much epigenetic marks vary normally is still unknown, but faulty epigenetics are already known to be at work in cancer and relatively rare Beckwith-Wiedemann syndrome, among others conditions. (news-medical.net)
  • Cancer predisposition syndromes tend to run in families. (childrens.com)
  • Our genetic counselors are experts at educating families about the implications of cancer predisposition syndromes on various members of the family, including parents and siblings, as well as any future children of individuals with these syndromes. (childrens.com)
  • We educate families on potential risks associated with certain cancer predisposition syndromes and options for prevention, early detection and treatment. (childrens.com)
  • Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. (beds.ac.uk)
  • Apert syndrome. (neurometplus.com)
  • Children with this syndrome tend to be much larger than what is typical, known as macrosomia. (mayoclinic.org)
  • Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. (medlineplus.gov)
  • Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. (medlineplus.gov)
  • 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. (medlineplus.gov)
  • At two years' age, Beckwith-Wiedemann Syndrome (BWS) stigmata emerged, and at five years a liver tumour with focal nodular hyperplasia and an. (lu.se)
  • Children with Beckwith-Wiedemann syndrome are at an increased risk of developing several types of cancerous and noncancerous tumors, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. (medlineplus.gov)
  • Surveillance Recommendations for Children with Overgrowth Syndromes and Predisposition to Wilms Tumors and Hepatoblastoma. (medscape.com)
  • Certain genetic syndromes may predispose children to Wilms' tumors e.g. (cancer.org)
  • Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. (sigmaaldrich.com)
  • For example, deletion of insulator binding sites at the H19/IGF2 imprinting center have been implicated in Beckwith-Wiedemann syndrome and Wilms' Tumor. (nih.gov)
  • Weksberg R, Smith AC, Squire J, Sadowski P. Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development. (medscape.com)
  • Note the size of the omphalocele - the bigger the size, the more likely the presence of anomalies and syndromes, the presence of liver in the sac, the complexity of treatment/surgery, and the risk for morbidity, mortality, disability. (cdc.gov)
  • Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement. (medscape.com)
  • Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. (medscape.com)
  • Wiedemann-Beckwith syndrome: clinical and epidemiological analysis of a consecutive series of cases in Spain]. (nih.gov)
  • 16. Twenty-one years to the right diagnosis - clinical overlap of Simpson-Golabi-Behmel and Beckwith-Wiedemann syndrome. (nih.gov)
  • Nephrotic syndrome refers to the constellation of clinical findings that result from severe renal loss of protein, with Proteinuria and hypoalbuminemia, edema, and hyperlipidemia. (nih.gov)
  • Kalish J, Duffy K, Lye C. Beckwith-Wiedemann Syndrome - NORD (National Organization for Rare Disorders). (medscape.com)
  • 2. Prenatal findings and the genetic diagnosis of fetal overgrowth disorders: Simpson-Golabi-Behmel syndrome, Sotos syndrome, and Beckwith-Wiedemann syndrome. (nih.gov)
  • In summary, genetic changes in the KCNQ1OT1 gene are associated with various health conditions, including Beckwith-Wiedemann syndrome and genomic imprinting disorders. (austrahealth.com.au)
  • There are several LOI disorders in humans including Beckwith-Wiedemann syndrome (BWS), Angelman syndrome, Prader-Willi syndrome, and Silver Russell syndrome. (biomedcentral.com)
  • Less than 10% of childhood cancers are known to be related to these predisposition syndromes. (healthychildren.org)
  • 8. α-Fetoprotein assay on dried blood spot for hepatoblastoma screening in children with overgrowth-cancer predisposition syndromes. (nih.gov)
  • Beckwith-Wiedemann syndrome: growth pattern and tumor risk according to molecular mechanism, and guidelines for tumor surveillance. (medscape.com)
  • Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. (medscape.com)
  • Phenotype, cancer risk, and surveillance in Beckwith-Wiedemann syndrome depending on molecular genetic subgroups. (medscape.com)
  • Molecular biology of Beckwith-Wiedemann syndrome. (nih.gov)
  • Beckwith-Wiedemann syndrome: multiple molecular mechanisms. (nih.gov)
  • Abnormalities involving genes on chromosome 11 that undergo genomic imprinting are responsible for most cases of Beckwith-Wiedemann syndrome. (medlineplus.gov)
  • Beckwith Wiedemann Syndrome is a genetic disorder characterized by overgrowth, abdominal wall defects, and an increased risk of certain childhood cancers. (proprofs.com)
  • Genetic IDs involve several distinct syndromes sharing homologies in terms of genetic etiologies and phenotypic features. (biomedcentral.com)
  • Even though phenotypic similarities exist between the two syndromes, whether the two syndromes are epigenetically similar is unknown. (biomedcentral.com)
  • Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. (medscape.com)
  • 11. Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome. (nih.gov)
  • Lesions altering maternal H19ICR function result in biallelic (2X) Igf2 expression and in reduced levels of H19 RNA and are associated with Beckwith Wiedemann syndrome and with several pediatric cancers. (nih.gov)
  • Beckwith-Wiedemann syndrome (BWS) is a loss-of-imprinting pediatric overgrowth syndrome. (biomedcentral.com)
  • Lynch syndrome (formerly known as HNPCC) is an inherited genetic disorder that increases the risk of colorectal cancer, stomach cancer, and some other cancers, including adrenal cortex cancer. (cancer.org)
  • Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. (nih.gov)
  • 9. Congenital Hepatoblastoma and Beckwith-Wiedemann Syndrome. (nih.gov)
  • Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, management and follow-up of the syndrome. (medscape.com)
  • Dosage analysis of differently methylated region showed evidence of loss of maternal methylation at KvDMR1 consistent with a diagnosis of Beckwith-Wiedemann syndrome (BWS). (medscape.com)
  • The Li-Fraumeni syndrome is a rare condition that is most often caused by a defect in the TP53 gene. (cancer.org)
  • This syndrome is caused by defects in a gene called MEN1 . (cancer.org)
  • These syndromes are caused by inherited gene mutations that increase the risk of developing cancer. (healthychildren.org)
  • 5. Duplication of exon 2 of the GPC3 gene in a case of Simpson-Golabi-Behmel syndrome. (nih.gov)
  • 6. Simpson-Golabi-Behmel syndrome type 1 and hepatoblastoma in a patient with a novel exon 2-4 duplication of the GPC3 gene. (nih.gov)
  • Prenatal Sonographic Findings of Beckwith-Wiedemann Syndrome: A Case Report. (e-ultrasonography.org)
  • Nephrotic syndrome is a collection of findings resulting from glomerular dysfunction with an increase in glomerular capillary wall permeability associated with pronounced proteinuria. (nih.gov)
  • Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. (medlineplus.gov)
  • Methylation analysis and diagnostics of Beckwith-Wiedemann syndrome in 1,000 subjects. (medscape.com)
  • The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. (medlineplus.gov)
  • A syndrome can be characterized as a group of symptoms occurring together. (nih.gov)
  • 4. Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome. (nih.gov)
  • 7. Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation. (nih.gov)
  • 13. Serum alpha-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia. (nih.gov)
  • 18. Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith-Wiedemann syndrome. (nih.gov)
  • Do not use the subheading /complications with the components of the syndrome. (nih.gov)
  • Available at https://rarediseases.org/rare-diseases/beckwith-wiedemann-syndrome/ . (medscape.com)
  • It is involved in various diseases and conditions, including Beckwith-Wiedemann syndrome and cluster cases of certain diseases. (austrahealth.com.au)
  • Lesions altering paternal H19ICR function result in loss of Igf2 expression and biallelic (2X) H19 expression and are associated with Russell-Silver syndrome. (nih.gov)
  • Available at https://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome . (medscape.com)
  • To index syndromes that are not in MeSH, index the main features of the syndrome and add SYNDROME (NIM). (nih.gov)
  • Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome. (medscape.com)
  • Beckwith-Wiedemann syndrome (BWS) is a clinically heterogeneous overgrowth syndrome associated with an increased risk for embryonal tumor development. (nih.gov)
  • This risk was not necessarily related to a known inherited cancer predisposition syndrome (see above). (healthychildren.org)
  • It is classified as an overgrowth syndrome, which means that affected infants are larger than normal (macrosomia), and some may be taller than their peers during childhood. (medlineplus.gov)
  • We report on 2 patients who were apparently normal at birth but later developed characteristics of Wiedemann-Beckwith syndrome (WBS). (nih.gov)
  • People with this syndrome develop hundreds of polyps in the large intestine. (cancer.org)
  • In ruminants this syndrome is known as large offspring syndrome (LOS). (biomedcentral.com)
  • This report describes for the first time the association of Beckwith-Wiedemann syndrome (BWS) and hypothyroidism in a 25 weeks preterm neonate. (medscape.com)
  • MeSH contains terms for many specific syndromes. (nih.gov)