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Williams SyndromeElastinAortic Stenosis, SupravalvularSyndromeChromosomes, Human, Pair 7FaciesLim KinasesPersonal Construct TheoryNervous System MalformationsIntellectual DisabilityFaceDown SyndromeCardiovascular AbnormalitiesHistory, 19th CenturyPerceptual DisordersTropoelastinDesmosineCreativityIntelligenceAbnormalities, MultipleIn Situ Hybridization, FluorescenceHistory, 17th CenturyEncyclopedias as TopicExtracellular MatrixExtracellular Matrix ProteinsRegenerationTissue EngineeringNerve RegenerationMedlinePlus
Deletion of the elastin geneNear the elastin geneArteriopathyGenesGene deletionBeurenChromosome band 7q11.23Aortic stenosisElasticityAbnormalitiesCollagensArteryDisorderMarfan SyndromeCardiovascular disease7q11.23 duplication syndromeChildren with Williams syndromeLysylHaploinsufficiencyTissuesSignsBroad foreheadCartilageFamily history of Williams syndromeTissue1961DiagnosisSitu hybridizationPatients with Williams syndromeTypicallyCognitiveCauses Williams syndromeCharacteristicsPeople with this syndromeHypercalcemiaCardiacAffectsSporadicallyClinical manifestationsIntellectual
Deletion of the elastin gene1
Near the elastin gene3
Arteriopathy1
  • Cardiovascular (heart) disease (elastin arteriopathy) - any artery may be narrowed. (rareguru.com)
Genes20
  • the deletion involves a region that spans more than 28 genes and, hence, is considered a contiguous gene deletion syndrome. (medscape.com)
  • Other genes within the region of the deletion are under investigation for their role in the cognitive profile of Williams syndrome, such as LIMK1, GTF1IRD1, GTF2IRD2 , GTF2I, NCF1, STX1A, BAZ1B, CLIP2, and TFII-1 . (medscape.com)
  • However, genotype-phenotype correlations with genes other than elastin are not yet fully elucidated, and the sample size for studies involving individual genes has been small. (medscape.com)
  • Williams syndrome is caused by not having a copy of 25 to 27 genes on chromosome number 7. (medlineplus.gov)
  • One of the missing genes is the gene that produces elastin. (medlineplus.gov)
  • Disorders such as Ehlers Danlos Syndrome, osteogenesis imperfecta, and epidermolysis bullosa are linked with genetic defects in collagen-encoding genes. (wikipedia.org)
  • Williams syndrome is caused by a deletion in the 7q11.23 region which includes at least 17 genes, resulting in a neurodevelopmental disorder [ 4 ]. (springer.com)
  • The syndrome is described as a combination of about 26 missing genes. (monstrous.com)
  • Williams syndrome is caused by a deletion of a segment of DNA containing about 25 genes in the chromosomal region 7q11.23. (spectrumnews.org)
  • CLIP2 , ELN , GTF2I , GTF2IRD1 , and LIMK1 are among the genes that are typically deleted in people with Williams syndrome. (rareguru.com)
  • The relationship between some of the other deleted genes and the features of Williams syndrome is not yet known. (rareguru.com)
  • Williams Syndrome is a condition caused due toa genetic defect in which there is deletion of about 27 genes from chromosome 7. (babyinfo.com.au)
  • Williams syndrome is caused by the spontaneous deletion of 26-28 genes on chromosome #7. (williamssyndrome.org.au)
  • One of the genes that are responsible for creating the protein known as Elastin is within this sector. (powerofpositivity.com)
  • BACKGROUND: Williams syndrome (WS), a rare neurodevelopmental disorder caused by hemizygous deletion of ~ 25 genes from chromosomal band 7q11.23, affords an exceptional opportunity to study associations between a well-delineated genetic abnormality and a well-characterized neurobehavioral profile. (bvsalud.org)
  • In Williams syndrome , about 26 to 28 genes, including the elastin gene (ELN) on the long arm of chromosome 7 are missing due to a microdeletion. (osmosis.org)
  • Even though this region is pretty small, it codes for some very important genes, one of which is the elastin gene, which is responsible for the production of elastin protein which allows many tissues in the body to resume their shape after stretching or contracting. (osmosis.org)
  • So the symptoms of Williams syndrome are linked to connective tissue abnormalities resulting from these missing genes. (osmosis.org)
  • Williams syndrome is a chromosome disorder that results from the deletion of certain genes, including the elastin gene, on the long arm of chromosome 7. (osmosis.org)
  • 2015). Mutations in mitochondrial genes have also been identified in patients with Leigh syndrome: see MTTV (590105), MTTK (590060), MTTW (590095), and MTTL1 (590050). (beds.ac.uk)
Gene deletion1
Beuren17
  • Originally described independently by Williams and Beuren in 1961, Williams syndrome (WS) is a rare genetic condition. (medscape.com)
  • Most deletions are not detected through standard karyotyping but rather through fluorescent in situ hybridization (FISH) for a 1.5-Mb deletion (Williams-Beuren syndrome chromosomal region [WBSCR]) or array comparative genomic hybridization. (medscape.com)
  • Severe left main coronary artery stenosis with abnormal branching pattern in a patient with mild supravalvar aortic stenosis and Williams-Beuren syndrome. (medscape.com)
  • Vascular wall remodeling in patients with supravalvular aortic stenosis and Williams Beuren syndrome. (medscape.com)
  • Later, A.J. Beuren described eleven new patients with the characteristics described by Williams and the disorder became known as Williams-Beuren Syndrome. (physio-pedia.com)
  • The above two pictures are from the following souce: Kaplan P, Wang P, Francke U. Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. (physio-pedia.com)
  • The above series of 3 pictures A, B, C was from the following journal article: Pober B, Johnson M, Urban Z. Mechanisms and treatment of cardiovascular disease in Williams-Beuren syndrome. (physio-pedia.com)
  • Williams-Beuren Syndrome: Computed Tomography Imaging Review Karuna M. Das,Tarek S. Momenah,Sven G. Larsson,Shehla Jadoon, Abdullah S. Aldosary,Edward Y. Lee Abstract Williams-Beuren syndrome (WBS) affects young infants and children. (gerboni.net)
  • RATIONALE: Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. (bvsalud.org)
  • Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. (bvsalud.org)
  • OUTCOMES: The deleted region in both fetuses overlapped with Williams-Beuren syndrome. (bvsalud.org)
  • To our knowledge, case 1 was the first reported fetus of Williams-Beuren syndrome with subependymal cyst. (bvsalud.org)
  • LESSONS: The genotype-phenotype of Williams-Beuren syndrome is complicated due to the phenotypic diversity. (bvsalud.org)
  • PURPOSE OF REVIEW: The current review will discuss the pathophysiology, work-up and clinical relevance of the ocular phenotype in Williams-Beuren syndrome in detail. (bvsalud.org)
  • RECENT FINDINGS: Few case reports, case series and retrospective studies reported the ophthalmic features in Williams-Beuren syndrome, focusing on specific aspects of the ocular involvement. (bvsalud.org)
  • SUMMARY: Numerous ocular features have been described in Williams-Beuren syndrome. (bvsalud.org)
  • Williams syndrome , also known as Williams-Beuren syndrome, is named after Dr. J. C. P. Williams who first described it. (osmosis.org)
Chromosome band 7q11.232
Aortic stenosis6
  • Point mutations or small intragenic deletions of ELN have been found in the autosomal dominant disorder familial supravalvular aortic stenosis (SVAS) without other characteristics of Williams syndrome. (medscape.com)
  • Identification and characterization of seven novel mutations of elastin gene in a cohort of patients affected by supravalvular aortic stenosis. (medscape.com)
  • This 49-year-old woman with Williams syndrome, cognitive impairment and aortic stenosis presented to physicians with right-sided chest pain. (springer.com)
  • [1] J.C.P. Williams observed in four patients an association between supravalvular aortic stenosis and the common physical and mental characteristics of this patient population and stated that it "may constitute a previously unrecognized syndrome" [1] . (physio-pedia.com)
  • The most significant medical problem associated with Williams syndrome is a form of heart disease called supravalvular aortic stenosis (SVAS). (rareguru.com)
  • Williams syndrome is a genetic multisystemic neurodevelopmental disorder that is characterized by cardiac anomalies (most often supravalvular aortic stenosis), a distinct facial appearance, connective tissue abnormalities (like joint laxity), and developmental and cognitive abnormalities. (healthguidenet.com)
Elasticity4
  • [5] Elastin is a protein responsible for tissue elasticity. (physio-pedia.com)
  • The underlying etiopathogenesis of this rare disease is due to the mutation of the elastin gene that is responsible for the elasticity of the arterial wall. (gerboni.net)
  • Elastin (ELN) is a protein found in the matrix, for providing elasticity and resilience to various tissues like the skin, lungs, and blood vessels. (elisakits.co.uk)
  • Elastin is abundant in tissues that require elasticity for functions including large arteries, lungs, skin, and ligaments. (elisakits.co.uk)
Abnormalities2
Collagens1
  • This process also rejuvenates the skin and production of collagens, elastin and hydration in the epidermis, smoothing, filling out and invigorating the skin. (squarespacescheduling.com)
Artery1
  • Nearly half of all children with 7q11.23 duplication syndrome have an enlarged (dilated) aorta, the artery that carries blood from the heart to the rest of the body. (stanfordchildrens.org)
Disorder12
  • Williams syndrome is a rare disorder that can lead to problems with development. (medlineplus.gov)
  • Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome. (medscape.com)
  • Williams syndrome is rare genetic disorder resulting in neurodevelopmental problems. (springer.com)
  • These multiple hernias suggest that patients with Williams syndrome may have some connective tissue disorder which makes them prone to develop hernias especially associated with those parts of the body which may have intracavity pressure variations like the abdomen. (springer.com)
  • William's Syndrome was first recognized as a unique disorder in 1961. (physio-pedia.com)
  • The video displays children with William's Syndrome and the common facial characteristics distinct to the genetic disorder. (physio-pedia.com)
  • Williams Syndrome is a development disorder. (babyinfo.com.au)
  • W illiams syndrome (WS) is a rare genetic disorder involving a characteristic cardiac defect, typical facial appearance, and an uneven profile of cognitive strengths and weaknesses. (reproductive-revolution.com)
  • However, the individual with Williams syndrome has a 50% chance of passing the disorder on to each of his or her children. (williamssyndrome.org.au)
  • Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. (nih.gov)
  • The developmental disorder Williams syndrome (WS) has been associated with an atypical social profile of hyper-sociability and heightened social sensitivity across the developmental spectrum. (bsl.nl)
  • Leigh syndrome is a clinically and genetically heterogeneous disorder resulting from defective mitochondrial energy generation. (beds.ac.uk)
Marfan Syndrome1
  • To assess the effects of EFF on early AVD processes, valve tissue from Williams and Marfan syndrome patients was also analyzed. (elsevierpure.com)
Cardiovascular disease1
7q11.23 duplication syndrome4
  • Last year, Van der Aa's team described 14 cases of the 7q11.23 duplication syndrome 1 , doubling the number of cases documented since 2005 2 . (spectrumnews.org)
  • Since behavioral and developmental challenges can occur with 7q11.23 duplication syndrome, your child will work with Mark Beidelman, PsyD , our neuropsychologist who is an expert in developmental and behavioral pediatrics , and our child and adolescent psychiatrist, Allan Reiss, MD , who is a world-renowned expert in neurogenetic disorders, to help your child succeed in all aspects of life. (stanfordchildrens.org)
  • 7q11.23 duplication syndrome is a condition caused by an extra copy of an area on the long (q) arm of chromosome 7. (stanfordchildrens.org)
  • Having a child with 7q11.23 duplication syndrome can be confusing and frightening. (stanfordchildrens.org)
Children with Williams syndrome4
Lysyl1
  • The purpose of this study was to evaluate association profiles of lysyl oxidase-like 1 ( LOXL1 ) gene polymorphisms with pseudoexfoliation syndrome (XFS) in a Korean population. (molvis.org)
Haploinsufficiency2
  • In hypermobility type of Ehlers-Danlos syndrome , haploinsufficiency (where one copy is unable to produce the protein in sufficient quantity) due to a 30-kb deletion of tenascin-X (TNXB) gene is responsible for the disease. (dorak.info)
  • In Cri-Du-Chat syndrome (5p deletion), the genetic basis of the phenotype is haploinsufficiency for the telomerase reverse transcriptase gene ( TERT ), which is included in the deleted part of chromosome 5. (dorak.info)
Tissues1
  • Hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndromes are characterized by paragangliomas (tumors that arise from neuroendocrine tissues distributed along the paravertebral axis from the base of the skull to the pelvis) and pheochromocytomas (paragangliomas that are confined to the adrenal medulla). (nih.gov)
Signs3
Broad forehead2
  • For example, the loss of the elastin gene leads to a broad forehead, flat nasal bridge, periorbital puffiness, short upturned nose, long medial cleft, full lips , and wide mouth that in combination give an 'elfin' like appearance. (osmosis.org)
  • Children with this syndrome tend to have certain facial characteristics, including a large head, a broad forehead, deep-set eyes, long eyelashes, straight eyebrows, and a nose that's broad at the tip. (stanfordchildrens.org)
Cartilage1
  • Arteries are composed of muscle cells in a cartilage/collagen/elastin 'ground substance' and are lined with sentitive skin cells. (health-heart.org)
Family history of Williams syndrome3
Tissue1
  • Human elastin ELISA kit can measure concentrations of ELN (elastin) present is plasma, serum, biological fluids or tissue homogenate samples. (elisakits.co.uk)
19611
  • It was first discovered in 1961 by Dr. J.C.P. Williams, a physician in New Zealand, though knowledge of this condition has increased since then. (powerofpositivity.com)
Diagnosis3
  • [1] Diagnosis of the syndrome can be made at birth based on physical characteristics, but a true medical diagnosis is confirmed following a diagnostic test called fluorescence in situ hybridization (FISH). (physio-pedia.com)
  • The diagnosis of Williams syndrome (WS) is established by genetic testing identifying a specific microdeletion at chromosome 7q11.23 (on the long arm of chromosome 7, at a position designated 11.23). (rareguru.com)
  • Fluorescent in situ hybridization or FISH is a test is used to confirm the diagnosis of Williams Syndrome. (babyinfo.com.au)
Situ hybridization1
  • The syndrome is suspected by clinical features and can be confirmed with microarray analysis or fluorescence in situ hybridization (FISH). (osmosis.org)
Patients with Williams syndrome2
  • A study by Phomakay et al indicated that ventricular hypertrophy is a common finding on electrocardiograms (ECGs) in patients with Williams syndrome and that an association exists between the severity of right- and left-sided obstructive lesions and the presence of right or left ventricular hypertrophy, respectively, on electrocardiography. (medscape.com)
  • Connect with other caregivers and patients with Williams syndrome and get the support you need. (rareguru.com)
Typically2
  • Mechanisms whereby chromosomes paired during meiosis may undergo unequal crossover resulting in Williams syndrome have typically been thought to result from an unequal overlap of repetitive Alu sequences flanking the region, resulting in a type of misalignment of the chromosomal regions during a crossover event. (medscape.com)
  • People with Williams syndrome typically have difficulty with tasks such as drawing and assembling puzzles. (rareguru.com)
Cognitive1
Causes Williams syndrome2
Characteristics1
  • Taking all of this into consideration with the features, characteristics, and personalities of William Syndrome, this may have been where the folklore of elves started from. (heatherlarkinphoto.com)
People with this syndrome2
  • Further reading after quick Internet searches revealed that people with this syndrome are exceptionally kind, highly verbally skilled and they have a tendency to be famously musical and possess perfect pitch. (monstrous.com)
  • The world would be a wonderful place if there were more such personalities such as those possessed by people with this syndrome. (heatherlarkinphoto.com)
Hypercalcemia1
  • There is no cure for Williams syndrome, and management involves treating associated conditions such as congenital heart defects, hypertension , and hypercalcemia, and providing therapy to maximize development and independence. (osmosis.org)
Cardiac1
  • Leigh syndrome can also have detrimental multisystemic affects on the cardiac, hepatic, gastrointestinal, and renal organs. (beds.ac.uk)
Affects2
Sporadically1
  • Medullary thyroid carcinoma (MTC) occurs both sporadically and in the autosomal dominantly inherited multiple endocrine neoplasia (MEN) type 2 syndromes. (bepress.com)
Clinical manifestations1
Intellectual1