Beckwith-Wiedemann Syndrome
Silver-Russell Syndrome
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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)The main features of BWS include:
1. Macroglossia (enlarged tongue): This is the most common feature of BWS, and it can cause difficulty with speaking and breathing.
2. Protruding ears: Children with BWS often have large ears that stick out from their head.
3. Omphalocele: This is a birth defect in which the intestines or other organs protrude through the navel.
4. Hydrocephalus: This is a build-up of fluid in the brain, which can cause increased pressure and enlargement of the head.
5. Polyhydramnios: This is a condition in which there is too much amniotic fluid surrounding the fetus during pregnancy.
6. Imperforate anus: This is a birth defect in which the anus is not properly formed, leading to difficulty with bowel movements.
7. Developmental delays: Children with BWS may experience delays in reaching developmental milestones, such as sitting, standing, and walking.
8. Intellectual disability: Some individuals with BWS may have mild to moderate intellectual disability.
9. Increased risk of cancer: Individuals with BWS have an increased risk of developing certain types of cancer, particularly Wilms tumor (a type of kidney cancer) and hepatoblastoma (a type of liver cancer).
There is no cure for Beckwith-Wiedemann Syndrome, but various treatments can be used to manage the associated symptoms and prevent complications. These may include surgery, physical therapy, speech therapy, and medication. With appropriate medical care and support, individuals with BWS can lead fulfilling lives.
Etymology: Named after J. Russell Silver, an American pediatrician who first described the condition in 1963.
Synonyms: Mup14 deficiency syndrome, maternal uniparental disomy 14 syndrome, Russell Silver syndrome.
Prevalence: Estimated to affect 1 in 25,000 to 1 in 50,000 births worldwide.
Incidence: The incidence of mup14 deficiency is estimated to be 1 in 100,000 to 1 in 200,000 births.
Causes and risk factors: Silver-Russell syndrome is caused by a genetic defect that results in the absence or incomplete expression of mup14, a gene located on chromosome 14. The condition is usually inherited from the mother, who must be a carrier of the mutated gene. In some cases, the condition may occur spontaneously due to a random genetic mutation during embryonic development.
Symptoms: The symptoms of Silver-Russell syndrome can vary in severity and may include:
* Delayed growth and development
* Intellectual disability or learning difficulties
* Small stature and low body mass index (BMI)
* Distinctive physical features such as small, low-set ears, a narrow forehead, and a short neck
* Increased risk of infections due to impaired immune function
* Congenital anomalies such as heart defects or cleft palate
Diagnosis: Silver-Russell syndrome is typically diagnosed through a combination of clinical evaluation, genetic testing, and prenatal screening. Chromosomal analysis can identify mup14 mutations in most cases, but in some instances, the condition may be diagnosed using molecular genetic tests such as PCR or FISH.
Treatment: There is no cure for Silver-Russell syndrome, and treatment is focused on managing the symptoms and preventing complications. This may include:
* Growth hormone therapy to promote growth and development
* Antibiotics to treat infections
* Speech therapy and special education to address learning difficulties
* Surgery to correct congenital anomalies such as heart defects or cleft palate
Prognosis: The prognosis for individuals with Silver-Russell syndrome varies depending on the severity of the condition and the presence of any additional health issues. With appropriate treatment, many individuals with the condition can lead fulfilling lives, but they may require ongoing medical care and support throughout their lives.
In conclusion, Silver-Russell syndrome is a rare genetic disorder that affects growth and development, often resulting in small stature and intellectual disability. While there is no cure for the condition, early diagnosis and appropriate treatment can help manage symptoms and prevent complications. With ongoing medical care and support, individuals with Silver-Russell syndrome can lead fulfilling lives.
Examples of syndromes include:
1. Down syndrome: A genetic disorder caused by an extra copy of chromosome 21 that affects intellectual and physical development.
2. Turner syndrome: A genetic disorder caused by a missing or partially deleted X chromosome that affects physical growth and development in females.
3. Marfan syndrome: A genetic disorder affecting the body's connective tissue, causing tall stature, long limbs, and cardiovascular problems.
4. Alzheimer's disease: A neurodegenerative disorder characterized by memory loss, confusion, and changes in personality and behavior.
5. Parkinson's disease: A neurological disorder characterized by tremors, rigidity, and difficulty with movement.
6. Klinefelter syndrome: A genetic disorder caused by an extra X chromosome in males, leading to infertility and other physical characteristics.
7. Williams syndrome: A rare genetic disorder caused by a deletion of genetic material on chromosome 7, characterized by cardiovascular problems, developmental delays, and a distinctive facial appearance.
8. Fragile X syndrome: The most common form of inherited intellectual disability, caused by an expansion of a specific gene on the X chromosome.
9. Prader-Willi syndrome: A genetic disorder caused by a defect in the hypothalamus, leading to problems with appetite regulation and obesity.
10. Sjogren's syndrome: An autoimmune disorder that affects the glands that produce tears and saliva, causing dry eyes and mouth.
Syndromes can be diagnosed through a combination of physical examination, medical history, laboratory tests, and imaging studies. Treatment for a syndrome depends on the underlying cause and the specific symptoms and signs presented by the patient.
Beckwith-Wiedemann syndrome
Imprinted brain hypothesis
Large for gestational age
Macroglossia
Cyclin-dependent kinase inhibitor 1C
Bioelectricity
KCNQ1OT1
Neural tube defect
Rhabdomyosarcoma
Perlman syndrome
Sotos syndrome
Simpson-Golabi-Behmel syndrome
List of pathologists
Marisa Bartolomei
Weaver syndrome
Andrew Heggie
Derepression
Neuroblastoma
Earlobe
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Occipital bone
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Insulin-like growth factor 2
Harriet Lee (swimmer)
TSPAN32
Insulated neighborhood
Liver cancer
Uniparental disomy
Andrew Paul Feinberg
Bone age
Genomic imprinting
Cantú syndrome
Folami Ideraabdullah
KvLQT1
H19 (gene)
BWS
List of OMIM disorder codes
WBS
Epigenetics in stem-cell differentiation
Megalencephaly
Omphalocele
WNT7B
List of syndromes
ETV6
TSSC1
Congenital hyperinsulinism
List of congenital disorders
PHLDA2
Beckwith-Wiedemann syndrome: MedlinePlus Genetics
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Wilms4
- 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)
- 2. Concurrent Hepatoblastoma and Wilms Tumor Leading to Diagnosis of Beckwith-Wiedemann Syndrome. (nih.gov)
- 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)
- Alterations in this region have been associated with Beckwith-Wiedemann syndrome, Wilms tumor, rhabdomyosarcoma, adrenocortical carcinoma, and lung, ovarian and breast cancers. (nih.gov)
Macroglossia1
- As the most common feature of Beckwith-Wiedemann syndrome (BWS), macroglossia may influence the quality of life, maxillofacial growth, and speech development of children. (lww.com)
CDKN1C3
- Less commonly, variants (also known as mutations) in the CDKN1C gene cause Beckwith-Wiedemann syndrome. (medlineplus.gov)
- Variants in the CDKN1C gene prevent this protein from restraining growth, which leads to the abnormalities characteristic of Beckwith-Wiedemann syndrome. (medlineplus.gov)
- 16. Decreased CDKN1C Expression in Congenital Alveolar Rhabdomyosarcoma Associated with Beckwith-Wiedemann Syndrome. (nih.gov)
Genotype-phenotype1
- 14. (Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome. (nih.gov)
Chromosome12
- 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)
- Beckwith-Wiedemann syndrome results from the abnormal regulation of genes on part of the short (p) arm of chromosome 11. (nih.gov)
- Like the other genetic changes responsible for Beckwith-Wiedemann syndrome, these changes disrupt the normal regulation of genes in this part of chromosome 11. (nih.gov)
- Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. (nih.gov)
- In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 22 attached to a piece of chromosome 11. (nih.gov)
- People with Emanuel syndrome typically inherit the der(22) chromosome from an unaffected parent. (nih.gov)
- Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome. (nih.gov)
- As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. (nih.gov)
- 4. High frequency of copy number variations (CNVs) in the chromosome 11p15 region in patients with Beckwith-Wiedemann syndrome. (nih.gov)
- 5. Genomic profiles of a hepatoblastoma from a patient with Beckwith-Wiedemann syndrome with uniparental disomy on chromosome 11p15 and germline mutation of APC and PALB2. (nih.gov)
- Imprinted genes on human Chromosome 7 have been suggested to underlie several disorders that show parent-of-origin effects, including Russell-Silver Syndrome (RSS). (cancerdir.com)
Genetic syndromes2
- Omphalocele is frequently (50% of cases or more) associated with additional birth defects (particularly cardiac, urogenital, brain, spina bifida), with certain complex anomaly patterns (pentalogy of Cantrell, OEIS), or with genetic syndromes (e.g. trisomies 13 and 18, Beckwith-Wiedemann syndrome, Donnai-Barrow syndrome). (cdc.gov)
- Browse the quick reference list of Genetic syndromes in Children Commonly asked in OSCE Stations. (dnbpediatrics.com)
Silver-Russell1
- 15. A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes. (nih.gov)
Uniparental disomy1
- 6. Beckwith-Wiedemann syndrome-associated hepatoblastoma: wnt signal activation occurs later in tumorigenesis in patients with 11p15.5 uniparental disomy. (nih.gov)
Disorder2
Hepatoblastoma1
- 1. Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome. (nih.gov)
Spectrum3
- Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome. (nih.gov)
- 9. Occurrence of Hepatoblastomas in Patients with Beckwith-Wiedemann Spectrum (BWSp). (nih.gov)
- Deciphering Beckwith-Wiedemann Spectrum will provide updates on the current diagnostic and clinical management information and the latest research findings on the condition. (cloud-cme.com)
Congenital1
- Associated with congenital heart disease and Pierre Robin syndrome. (jaypeedigital.com)
Diagnosis1
- 7. Analysis of the methylation status of the KCNQ1OT and H19 genes in leukocyte DNA for the diagnosis and prognosis of Beckwith-Wiedemann syndrome. (nih.gov)
Genes4
- Abnormal methylation disrupts the regulation of these genes, which leads to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. (medlineplus.gov)
- Because these genes are involved in directing normal growth, problems with their regulation lead to overgrowth and the other characteristic features of Beckwith-Wiedemann syndrome. (nih.gov)
- BACKGROUND: Epigenetic studies, such as the measurement of DNA methylation, are important in the investigation of syndromes influenced by imprinted genes. (ox.ac.uk)
- Aberrations in the expression of imprinted genes have been associated with various developmental and behavioral disorders, such as Prader-Willi syndrome and Beckwith-Wiedemann syndrome. (cancerdir.com)
Tongue1
- On top of it all Ocea was born with a rare genetic disease called Beckwith-Wiedemann Syndrome, she required a tongue reduction surgery at only 7 months and took many months to recovery. (kandaka.blog)
Tumor3
- 3. Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1. (nih.gov)
- 10. Calcifying nested stromal-epithelial tumor (CNSET) of the liver in Beckwith-Wiedemann syndrome. (nih.gov)
- Mutations in this gene are implicated in sporadic cancers and Beckwith-Wiedemann syndorome, suggesting that this gene is a tumor suppressor candidate. (nih.gov)
Gene1
- Fanconi-Bickel syndrome (FBS) is a rare condition of carbohydrate metabolism, caused by a recessive defect in the facilitative glucose transporter GLUT2 encoded by the SLC2A2 gene and characterized by a wide spec. (biomedcentral.com)
Patients1
- Growth hormone (GH) deficiency is common in patients with Prader-Willi syndrome (PWS) and leads to short adult stature. (biomedcentral.com)
Anomalies2
- Clinically, the size of the omphalocele correlates with the risk of associated anomalies and syndromes (the larger the omphalocele the higher the risk). (cdc.gov)
- Prominent feature of this syndrome is orofacial anomalies. (jaypeedigital.com)
Inheritance1
- 12. Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome. (nih.gov)
Translocation1
- About 1 percent of all people with Beckwith-Wiedemann syndrome have a chromosomal abnormality such as a rearrangement (translocation) that involves 11p15.5 or abnormal copying (duplication) or deletion of genetic material in this region. (nih.gov)
Cleft2
- Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate. (nih.gov)
- It is an autosomal dominant syndrome consisting of a cleft lip or cleft palate and distinctive pits of the lower lips. (jaypeedigital.com)
Occurs1
- In Beckwith-Wiedemann syndrome, paternal UPD usually occurs early in embryonic development and affects only some of the body's cells. (medlineplus.gov)
Lesions2
- 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)
- 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)
Investigation1
- Derivation and investigation of the first human cell-based model of Beckwith-Wiedemann syndrome. (nih.gov)
Infertility1
- The most common presentation of Klinefelter syndrome (KS) is infertility and features of hypogonadism. (biomedcentral.com)
Associated with a variety1
- Can be an isolated condition, but also may be associated with a variety of malformation syndromes. (jaypeedigital.com)
Protein1
- Inflammation of the tubules and the interstitium qualifies nephronophthisis as a tubulointerstitial nephritis , but don't confuse this with nephritic syndrome, which is where red blood cells and protein escape in the urine as a result of damage to the glomerulus. (osmosis.org)
Normal2
- 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)
- Normal values for selected physical parameters: An aid to syndrome delineation. (nih.gov)
Individuals2
- The signs and symptoms of Beckwith-Wiedemann syndrome vary among affected individuals. (medlineplus.gov)
- Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3. (nih.gov)
Children2
- 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)
- Most children and adults with Beckwith-Wiedemann syndrome do not have serious medical problems associated with the condition. (medlineplus.gov)
Risk1
- Currently no consensus exists on the risk of malignancy in this syndrome. (biomedcentral.com)
Condition1
- Beckwith-Wiedemann syndrome is a condition that affects many parts of the body. (medlineplus.gov)