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 ...
Beckwith-Wiedemann syndrome. Disease definition Beckwith-Wiedemann syndrome (BWS) is a genetic disorder characterized by ... Differential diagnoses include Simpson-Golabi-Behmel, Costello, Perlman, and Sotos syndromes, and mucopolysaccharidosis type VI ...
Psychology definition for Beckwith-Wiedemann Syndrome (BWS) in normal everyday language, edited by psychologists, professors ... Beckwith-Wiedemann Syndrome (BWS). Beckwith-Wiedemann syndrome (BWS) refers to an overgrowth condition characterized by a ... This was first described by Bruce Beckwith and Rudolf Wiedemann in the 1960s. ...
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. The major features are anterior ...
A baby with Beckwith-Wiedemann syndrome is born large, macrosomic, and grows into a gigantic infant. ... BWS (Beckwith-Wiedemann syndrome). Last reviewed dd mmm yyyy. Last edited dd mmm yyyy ...
Gigantism Syndrome (EMG Syndrome) Citable version for download in the Journal A&I www.ai-online.info: Beckwith-Wiedemann ... Folder Beckwith-Wiedemann syndrome Disease name: Beckwith-Wiedemann syndrome. ICD 10: 68730 ... Beckwith-Wiedemann syndrome ICD 10: 68730 Synonyms: Exomphalos-Macroglossia - ...
"Beckwith-Wiedemann Syndrome" by people in this website by year, and whether "Beckwith-Wiedemann Syndrome" was a major or minor ... "Beckwith-Wiedemann Syndrome" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH ( ... Beckwith Wiedemann Syndrome. *Syndrome, Beckwith-Wiedemann. *Wiedemann-Beckwith Syndrome (WBS). *Syndrome, Wiedemann-Beckwith ( ... Below are the most recent publications written about "Beckwith-Wiedemann Syndrome" by people in Profiles. ...
Beckwith-Wiedemann syndrome is the most frequent overgrowth syndrome, with a prevalence of 1 case per 10 340 naturally ... Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an ... Diffuse infantile hepatic hemangiomas in a patient with Beckwith-Wiedemann syndrome: A new association?. ... Cutaneous and hepatic infantile haemangiomas as a clinical manifestation of Beckwith Wiedemann syndrome ...
Atypical Beckwith-Wiedemann syndrome, Classical Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Sotos syndrome, ... Atypical Beckwith-Wiedemann syndrome - Classical Beckwith-Wiedemann syndrome - Simpson-Golabi-Behmel syndrome - Sotos syndrome ... Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders Beckwith-Wiedemann syndrome (BWS) and other ... Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Level 2: Growth disorders. Relevant ...
Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases.. scientific article published in January 1984 ... Trisomy 11p15 and Beckwith-Wiedemann syndrome. A report of two cases. (English) ... Abnormality of chromosome 11 in patients with features of Beckwith-Wiedemann syndrome ...
Wiedemann-Beckwith Syndrome; Wiedemann-Beckwith Syndrome (WBS). On-line free medical diagnosis assistant. Ranked list of ... Bronze baby syndrome, biliary hypoplasia, incomplete beckwith-wiedemann syndrome and partial trisomy 11. A premature infant ... Wiedemann-Beckwith syndrome (WBS) is a syndrome including exomphalos, macroglossia, and generalized overgrowth. The locus has ... Four cases of duplication of a segment of 11p have been reported in patients with beckwith-wiedemann syndrome (Waziri et al. ...
Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or Hemihypertrophy). Version: ... PPM - Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (Isolated Hemihyperplasia or Hemihypertrophy) ... The care of children with Beckwith-Wiedemann Syndrome and Isolated Lateralized Overgrowth (also known as Isolated ... includes abdominal and renal ultrasound in the management of Beckwith-Wiedemann Syndrome and Lateralized Overgrowth Syndrome. ...
Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction *Bradford ... Functional copper transport explains neurologic sparing in Occipital Horn syndrome *Jingrong Tang ...
Beckwith-Wiedemann Syndrome T-shirt is a powerful statement piece designed to raise awareness about this rare genetic disorder ...
Tongue reduction for macroglossia in Beckwith Wiedemann syndrome: review and application of new technique.. A A C Heggie, N J ... Beckwith Wiedemann syndrome (BWS) is a rare, congenital overgrowth disorder that is characterized by macroglossia, anterior ...
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. This syndrome is characterized by large birth weight and a large liver, spleen and tongue; low ... WAGR Syndrome. The acronym WAGR stands for the four diseases present in WAGR syndrome, including: Wilms tumor, aniridia ( ... Denys-Drash Syndrome. This syndrome is characterized by kidney failure, genitourinary malformations and tumors of the gonads ( ... A small percentage of patients with Wilms tumor have one of three genetic syndromes, including the following:. ...
Beckwith-Wiedemann syndrome: Children with this condition are more prone to develop sarcomas, such as RMS, but they are more ... Noonan syndrome: It is a syndrome in which children tend to be short, have cardiac problems, and develop physical and learning ... Li-Fraumeni syndrome: This syndrome is found in family members who are predisposed to developing sarcomas, such as RMS and ... Costello syndrome: It is a rare occurrence in humans, yet children with this disease have high birth weights but later fail to ...
Sun FL, Dean WL, Kelsey G, Allen ND, Reik W: Transactivation of Igf2 in a mouse model of Beckwith-Wiedemann syndrome. Nature. ... Rescue of placental phenotype in a mechanistic model of Beckwith-Wiedemann syndrome. *Rosemary Oh-McGinnis1, ... Maher ER, Reik W: Beckwith-Wiedemann syndrome: imprinting in clusters revisited. Journal of Clinical Investigation. 2000, 105: ... McCowan LM, Becroft DM: Beckwith-Wiedemann syndrome, placental abnormalities, and gestational proteinuric hypertension. ...
CDKN1C sequencing is a molecular test used to identify variants in the gene associated with Beckwith-Wiedemann Syndrome. ... BWS is the most common overgrowth syndrome characterized by large organs and body size. Macroglossia, ear lobe creases, helical ... Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing. Beckwith-Wiedemann Syndrome (BWS): CDKN1C Sequencing. PRINT ...
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 ...
Li-Fraumeni syndrome. *Neurofibromatosis type 1 (NF1). *Beckwith-Wiedemann syndrome. *Costello syndrome ...
ACCs arise in patients with Beckwith-Wiedemann syndrome. (a). *ACC presents in 50% of cases with signs and symptoms of excess ... sporadic ACC cases and paternal disomy of the IGF2 gene is seen in ACC occurring in patients with Beckwith-Wiedemann syndrome. ... TP53 mutations in ACC may be germline (seen in Li-Fraumeni syndrome) or sporadic and are rarely seen in adrenal adenomas. ... ACCs arise in patients with Beckwith-Wiedemann syndrome.. *ACCs arise in patients with Cushing syndrome. ...
Beckwith-Wiedemann syndrome is a rare genetic condition that may cause symptoms such as asymmetrical growth and a higher risk ... What You Need to Know About Kabuki Syndrome. Kabuki syndrome is a genetic syndrome that may be random or autosomal dominant. It ...
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 ...
A microdeletion at 12q24.31 can mimic Beckwith-Wiedemann syndrome neonatally. Mol Syndromol. 2010;1:42-5. [PMC free article] [ ... Related Rare Diseases: Congenital Bilateral Perisylvian Syndrome, Progressive Myoclonus Epilepsy, Landau Kleffner Syndrome, ... ... Related Rare Diseases: MOG Antibody Disease, Aromatic L-Amino Acid Decarboxylase Deficiency, Miller Fisher Syndrome, ... ... Related Rare Diseases: Febrile Infection-Related Epilepsy Syndrome (FIRES), NORSE (New Onset Refractory Status Epilepticus) and ...

No FAQ available that match "beckwith wiedemann syndrome"

No images available that match "beckwith wiedemann syndrome"