Transtorno genético multissistêmico raro do desenvolvimento neurológico caracterizado por aparência facial distinta, anomalias cardíacas (mais frequentemente estenose aórtica supravalvar), anormalidades cognitivas e de desenvolvimento e anormalidades do tecido conjuntivo (como frouxidão articular).
Introdução
O que você precisa saber de cara
A síndrome de Williams é um distúrbio do desenvolvimento que afeta muitas partes do corpo. Esta condição é caracterizada por deficiência intelectual leve a moderada ou problemas de aprendizagem, características de personalidade únicas, traços faciais distintivos e problemas cardíacos e vasculares (cardiovasculares).
Pessoas com síndrome de Williams tipicamente têm dificuldade com tarefas visuoespaciais, como desenhar e montar quebra‑cabeças, mas tendem a ter bom desempenho em tarefas que envolvem linguagem falada, música e aprendizagem por repetição (memorização mecânica). Indivíduos afetados têm personalidades extrovertidas e cativantes e costumam demonstrar um interesse extremo por outras pessoas. Transtorno de déficit de atenção (ADD), problemas de ansiedade e fobias são comuns entre pessoas com essa condição.
Crianças pequenas com síndrome de Williams apresentam traços faciais distintivos, incluindo testa larga, inchaço ao redor dos olhos, ponte nasal plana, bochechas cheias e queixo pequeno. Muitas pessoas afetadas têm problemas dentários, como dentes pequenos, espaçados, tortos ou ausentes. Crianças mais velhas e adultos tipicamente têm rosto mais longo, boca larga e lábios cheios.
Uma forma de doença cardiovascular chamada estenose aórtica supravalvar (SVAS) ocorre frequentemente em pessoas com síndrome de Williams. A estenose aórtica supravalvar é um estreitamento do grande vaso sanguíneo que transporta sangue do coração para o resto do corpo (a aorta). Se essa condição não for tratada, o estreitamento da aorta pode levar a falta de ar, dor no peito e insuficiência cardíaca. O estreitamento de outros vasos, incluindo a artéria que vai do coração para os pulmões (estenose pulmonar) e as artérias que fornecem sangue ao coração (estenose da artéria coronária), também pode ocorrer. Outros problemas cardíacos e vasculares, incluindo pressão alta (hipertensão) e vasos sanguíneos rígidos, também foram relatados em pessoas com síndrome de Williams. Indivíduos com síndrome de Williams têm risco aumentado de complicações com o uso de anestesia.
Sinais e sintomas adicionais da síndrome de Williams incluem anomalias do tecido conjuntivo (tecido que sustenta as articulações e órgãos do corpo), como problemas nas articulações e pele macia e frouxa. Pessoas afetadas podem também apresentar níveis elevados de cálcio no sangue (hipercalcemia) na infância, atrasos no desenvolvimento, problemas de coordenação e baixa estatura. Problemas médicos envolvendo visão ou audição, incluindo sensibilidade ao som (hiperacusia), são frequentemente associados à síndrome de Williams. Além disso, problemas no trato digestivo e no sistema urinário também são possíveis. Obesidade ou diabetes podem se desenvolver na idade adulta.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoTranstorno genético multissistêmico raro do desenvolvimento neurológico caracterizado por aparência facial distinta, anomalias cardíacas (mais frequentemente estenose aórtica supravalvar), anormalidades cognitivas e de desenvolvimento e anormalidades do tecido conjuntivo (como frouxidão articular).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 85 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 234 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
19 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Cutis laxa, autosomal dominant, 1
A connective tissue disorder characterized by loose, hyperextensible skin with decreased resilience and elasticity leading to a premature aged appearance. Face, hands, feet, joints, and torso may be differentially affected. Additional variable clinical features are gastrointestinal diverticula, hernia, and genital prolapse. Rare manifestations are pulmonary artery stenosis, aortic aneurysm, bronchiectasis, and emphysema.
Granulomatous disease, chronic, autosomal recessive, 1
A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.
Medicamentos e terapias
Mecanismo: Histamine H1 receptor antagonist
Variantes genéticas (ClinVar)
502 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 53 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
74 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Williams
Centros de Referência SUS
24 centros habilitados pelo SUS para Síndrome Williams
Centros para Síndrome Williams
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 753
Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.
Williams syndrome (WS; OMIM #194,050) is a multisystem pediatric genetic disorder caused by a heterozygous microdeletion of a 1.5-1.8 Mb region at chromosome 7q11.23, encompassing 26 to 28 genes. Clinical hallmarks include cardiovascular anomalies, distinctive craniofacial morphology and neurodevelopmental deficits characterized by hypersociability, cognitive impairment and anxiety. Although causative therapies for WS still remain elusive, advances in gene editing and forebrain organoids have already greatly furthered our understanding of the underlying mechanisms. This narrative review was conducted by searching for papers using PubMed/MEDLINE. Relevant publications were identified using single and/or combined keywords including: Williams syndrome, 7q11.23, microdeletion, microduplication, atypical deletion, neurodevelopment, neuroanatomy, neuroimaging. cognitive impairment, mouse models, GTF2I, GTF2IRD1, CLIP2, LIMK1, NCF1, EIF4H, STX1A/B, FZD9, HIP1, CLDN3, FKBP6, organoid, induced pluripotent stem cell (iPSC) and forebrain organoids. Mouse models including multigene deletion strains recapitulating the WS critical region and single-gene knockout strains targeting Gtf2i, Gtf2ird1, Clip2 and Limk1 replicate key WS neurodevelopmental phenotypes, substantially contributing to mechanistic studies and therapeutic screening. In addition, forebrain organoids derived from patients or generated by gene editing have provided human-specific insights into progenitor dynamics, synaptic function, and ribosome biogenesis. This review synthesizes recent progress in WS modeling in the context of neurodevelopmental impairments. While animal models and forebrain organoids have substantially accelerated both mechanistic understanding and translational research in WS, effective diagnostic and therapeutic approaches are still unavailable. Integration of animal models and forebrain organoids, together with the advanced technologies, will be essential for biomarker discovery and development of mechanism-based therapeutic approaches.
Global and Local Processing of Letters and Faces in Children and Adolescents with Typical and Atypical Development.
this paper investigates the local vs. global visual processing preference in typically developing (TD) children, youth with Down syndrome (DS), and youth with Williams syndrome (WS). In particular, the global precedence effect (GPE) and the global interference effect (GI) have recently been described as two distinct and at least partially independent effects. in this study, 50 participants (TD = 25, DS = 13, WS = 12) completed two experiments requiring the identification of either the global or local level of hierarchical stimuli, which consisted of letters and schematic faces. For each stimulus type, two separate blocks were conducted, one with the task to focus on the local elements and the other with the task to focus on the global shape. our results indicate that TD children demonstrate a global precedence effect for letters but not for schematic faces, suggesting a developmental modulation of configural processing. In contrast, both DS and WS groups showed a global processing bias for schematic faces and a significant global interference effect in both conditions, likely reflecting deficits in inhibitory control. these findings challenge the notion that DS and WS individuals can be classified strictly as global or local processors, respectively, emphasizing the influence of stimulus type and cognitive demands. Implications for neurodevelopmental research and clinical interventions are discussed.
Explaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.
The comprehension-production vocabulary gap is a well-documented hallmark of language development; however, anecdotal evidence suggests that this asymmetry may be reduced in children with Williams syndrome (WS). Here, we use empirical data to characterise the comprehension-production gap and computational modelling to investigate potential mechanisms underlying this distinctive linguistic profile, focusing on children aged 7 months to 6 years. Using parental reports (Communicative Development Inventories), we measured the receptive and expressive vocabularies of children with WS (n = 67) and compared them to typically developing children (n = 1210) and cross-syndrome groups with Down syndrome (n = 27), and fragile X syndrome (n = 15). Results confirm that children with WS show a unique trajectory: alongside general delay, they exhibit a significantly reduced comprehension-production asymmetry not observed in other groups. To elucidate the potential origins of this phenomenon, we implemented a biologically inspired neural network-self-organising map (SOM)-to model early word learning and evaluate visual and auditory map representations. Our findings reveal that WS-like vocabulary patterns can emerge from selective difficulties in visual processing, leading to exemplar-based rather than prototype-based object representations. The model suggests that these visual processing challenges, consistent with known visuospatial difficulties in WS, may contribute to the atypical comprehension-production relationship, while broader processing constraints may underlie general delays. This study provides a mechanistic account of vocabulary development in WS, highlighting the role of visual constraints in shaping lexical outcomes. More broadly, it underscores the need to conceptualise language development as an interaction between sensory input and cognitive subsystems, explaining why the comprehension-production gap is not a uniform feature of language acquisition.
Lack of Williams syndrome-associated genes alters quantity discrimination in zebrafish.
The ability to discriminate sets of items based on their numerosity is alleged to be an evolutionary conserved mechanism in all vertebrates. People with Williams syndrome (WS), a rare multigenic condition, show altered number and quantity cognition abilities. Assessing the contribution of specific genes to WS using animal models could help understand the basis of numerical impairments. Here, we assessed the quantitative abilities of juvenile zebrafish (Danio rerio) with loss of function of two of the genes affected in WS using a group size preference behavioural assay. The selected genes were: baz1b, implicated in neural crest development; and fzd9b, associated with neuronal functioning. The contrasts studied were 2 versus 5, 2 versus 4 and 2 versus 3. While group-level comparisons did not reveal statistically significant genotype differences, single-sample tests suggested a reduced preference for larger shoals in some contrasts among mutants. These trends were more apparent when the total number of items likely exceeded working memory capacity (i.e., 6 or more items), while performance on small numerosity contrasts remained relatively intact. These data agree with previous analyses of humans with WS and offer preliminary evidence that specific genes may influence quantity discrimination. Our research also supports the use of zebrafish as model organisms in which to characterise the neurobiological basis of dyscalculia in WS and associated disorders.
Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.
Eating disorder (ED) symptoms have been studied in adults with other rare genetic conditions but not in Williams syndrome (WS). This study examined the prevalence of ED symptoms in adults with WS and associated clinical and demographic factors. We hypothesized that a proportion would screen positive for an ED, primarily with avoidant/restrictive food intake disorder (ARFID) or binge-eating presentations. Adults with WS completed modified versions of the Eating Disorder Assessment for DSM-5 and the Pica, ARFID, and Rumination Disorder Questionnaire, administered as semi-structured interviews by trained research staff. Participants also completed a medical history questionnaire. We used descriptive and between-group analyses to examine clinical and demographic characteristics of ED-positive and ED-negative groups. Of the 86 participants, more than one quarter (n = 24, 28%; 95% CI [20%, 38%]) screened positive for an ED. Adults who screened positive for an ED most commonly had binge-type EDs (n = 15, 63%; 95% CI [43%, 79%]) and ARFID-type EDs (n = 7, 29%; 95% CI [15%, 49%]). Of those who screened positive, 96% reported they had never been previously diagnosed with an ED. Our study provides initial evidence of a high frequency of positive ED screens in adults with WS, most commonly ARFID-type and binge-type EDs. Our findings also suggest that, while prevalent in WS, EDs typically go undetected, and that it may be difficult to identify at-risk individuals. There is a need to validate ED screeners for adults with WS to enhance detection and access to care.
Publicações recentes
Motor Characteristics of Early Walking in Children With Williams Syndrome.
Case Report: Two infants with hypercalcemia of rare and distinct etiologies.
Evaluation of Perioperative Anesthetic Outcomes in Patients with Williams Syndrome Based on the Risk Stratification.
🥈 ObservacionalEating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.
Ovarian hormones moderate systolic hypertension in female Eln haploinsufficient mice.
📚 EuropePMC1.555 artigos no totalmostrando 198
Eating Disorder Screening in Adults With Williams Syndrome: A Preliminary Report.
The International journal of eating disordersOvarian Hormones Moderate Systolic Hypertension in Female Eln Haploinsufficient Mice.
American journal of physiology. Renal physiologyModeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.
World journal of pediatrics : WJPEbstein's anomaly with life-threatening arrhythmia: an unusual cardiovascular manifestation of Williams syndrome - a case report.
BMC cardiovascular disordersComparison of energy and nutrient intake, dietary diversity score and physical development between children with Williams syndrome and neurotypical developing children.
Nutricion hospitalariaCommunicative Development Inventories (CDIs) in etiologically diverse developmental conditions: A systematic review.
Research in developmental disabilitiesAnxiety in Williams Syndrome: Qualitative Analysis of Caregiver and Individual Interviews.
Journal of autism and developmental disordersSupravalvular aortic stenosis with aneurysmal dilation and infective vegetations of the aortic arch in a pediatric patient with Williams syndrome: a case report and review of the literature.
Journal of medical case reportsThe lasting burden of gender discrimination in medicine: lifelong multisystem consequences of Rathke's pouch resection in Williams syndrome.
International journal of surgery (London, England)Global and Local Processing of Letters and Faces in Children and Adolescents with Typical and Atypical Development.
Brain sciencesA systematic review and meta-analysis of morphosyntactic skills in Williams syndrome.
Acta psychologicaDenosumab as a treatment for pediatric hypercalcemia-a multicenter experience.
JBMR plusExplaining the Comprehension-Production Vocabulary Gap Through Neural Networks and Cross-Syndrome Evidence: Insights From Williams Syndrome.
Developmental sciencePrenatally Diagnosed 7q11.23 Copy Number Variations: A Retrospective Case Series.
Molecular genetics & genomic medicineIn-depth profile analysis and developmental trends in Wechsler performance among individuals with Williams syndrome.
Child neuropsychology : a journal on normal and abnormal development in childhood and adolescenceResting Energy Expenditure in Adults With Williams Syndrome: Comparative Accuracy of Predictive Equations.
Journal of intellectual disability research : JIDRAmbulatory General Anesthesia for Dental Treatment in a Patient With Williams Syndrome and Supravalvular Aortic Restenosis: A Case Report.
Anesthesia progressClinical and Radiographic Evaluation of Molar Root-Incisor Malformation (MRIM): A Case Series.
Case reports in dentistryAttention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.
Frontiers in psychologyA Del(5Ncf1-Fkbp6) mouse model of Williams syndrome shows coronary, aortic, and cerebral vascular abnormalities with behavioral deficits.
PNAS nexusComparing evidence-based telemental health treatments for caregivers of children with Prader Willi and Williams syndromes: feasibility, acceptability, and preliminary outcomes.
Cognitive behaviour therapyUnveiling the alterations of action processing and mu rhythm in Williams Syndrome.
NeuroImageMOF promotes cisplatin resistance in lung cancer cells by enhancing WSTF acetylation.
In vitro cellular & developmental biology. AnimalDissecting the Genetic Contribution of Tooth Agenesis.
International journal of molecular sciencesBrain Monoamine Deficits in the CD Mouse Model of Williams-Beuren Syndrome.
BiomoleculesPreserved phonological but impaired semantic processing in Williams syndrome: Evidence from a word association judgment task.
Research in developmental disabilitiesOphthalmic features of 218 children with Williams syndrome in china: A single-center retrospective study.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieLong Segment Midaortic Stenosis in Williams Syndrome: Report of a Very Rare Presentation.
Medical journal of the Islamic Republic of IranObservational study to preliminarily characterize the audiological profile of chinese children with williams syndrome.
Journal of otologyLack of Williams syndrome-associated genes alters quantity discrimination in zebrafish.
Behavioural brain researchWilliams Syndrome Associated With Facial Port-Wine Stain and Phacomatosis Pigmentovascularis: A Case Report.
Clinical case reportsPsychopharmacology Clinical Trial Recruitment Challenges in Neurogenetic Syndromes: Lessons from an Open-Label Trial of Fluoxetine in Down Syndrome.
Journal of child and adolescent psychopharmacologyComputerized-assisted technology of virtual reality on memory in people with Williams syndrome.
Frontiers in psychologyTranslation and cross-cultural adaptation of a questionnaire for assessing hyperacusis in Williams syndrome.
Arquivos de neuro-psiquiatriaBile Duct Paucity in a Case of Neonatal Intrahepatic Cholestasis Due to Citrin Deficiency: Finding the Missing Piece of the Puzzle!
Journal of clinical and experimental hepatologyAnxiety in Young Children with Williams Syndrome: A Longitudinal Study.
Children (Basel, Switzerland)Stenting of Significant Aortic Coarctation Near Artery of Adamkiewicz in a Toddler.
JACC. Case reportsChallenges with shifting, regardless of disengagement: attention mechanisms and eye movements in Williams syndrome.
Journal of neurodevelopmental disordersExploring the Relationship Between Empathy and Social Skills for Individuals with Different Forms of Intellectual and Developmental Disabilities.
Journal of autism and developmental disordersCharacterizing Periprocedural Care for Pediatric Patients With Williams Syndrome Undergoing General Anesthesia at a Tertiary Pediatric Hospital.
AANA journalWilliams syndrome presenting as infantile hypercalcemia with acute kidney injury: a case report.
CEN case reportsMiddle aortic syndrome in a paediatric patient with Williams syndrome: a case report.
Cardiology in the youngRight-Sided Infectious Endocarditis in the Patient With Williams Syndrome: Importance of Recognizing Disease-Specific Pathophysiology in Adults.
CureusAnxiety during transition from primary to secondary schools in neurodivergent children.
JCPP advancesBrain lateralization for perceiving direction of motion is reversed in Williams syndrome and related to BUD23.
Scientific reportsAcoustic and phonological processes in Williams Syndrome: A systematic review and meta-analysis.
Neuroscience and biobehavioral reviewsClinical course and outcomes of supravalvular aortic stenosis in adults.
Open heartMusic and Language in Williams Syndrome: An Integrative and Systematic Mini-Review.
Behavioral sciences (Basel, Switzerland)Analysis of clinical audiological characteristics in children with Williams syndrome in China.
Orphanet journal of rare diseasesOrthodontic-Surgical Approach for Treating Skeletal Class II Malocclusion with Severe Mandibular Hypoplasia in Williams Syndrome.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationCharacteristics of Early Language Development in Children With Williams Syndrome.
American journal of medical genetics. Part A[MEP-24] Middle Aortic Syndrome in An Adult Presenting with Limb Ischemia.
Turk gogus kalp damar cerrahisi dergisiDifferences in allele frequencies of personality-related genes in three varieties of Shiba Inu in Japan.
Animal geneticsPrenatal Genetic Diagnosis of Williams-Beuren Syndrome with Atypical and Complex Phenotypes.
Clinical laboratoryToward a rational therapeutic for elastin related disease: Key considerations for elastin based regenerative medicine strategies.
Matrix biology : journal of the International Society for Matrix BiologyMetabolomic profiles in serum uncover novel biomarkers in children with Williams-Beuren syndrome.
Scientific reportsSevere mitral regurgitation with coexisting giant left atrium in a patient with Williams syndrome.
Journal of echocardiographyChromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.
Balkan journal of medical genetics : BJMGApplication feasibility of virtual models and computational fluid dynamics for the planning and evaluation of aortic repair surgery for Williams syndrome.
Journal of cardiothoracic surgeryTowards a genetics of semantics? False memories and semantic memory organization in Williams syndrome.
NeuropsychologiaN -Acetylcysteine for Nonsuicidal Self-Injurious Behavior in 3 Adults With Williams Syndrome : A Case Series.
Journal of clinical psychopharmacologyPerception of psychosocial burden in mothers of children with rare pediatric neurological diseases.
Scientific reportsEmbracing Neurodiversity in Medicine-Building a More Inclusive Physician Workforce.
JAMANon-Hodgkin lymphoma in Williams syndrome: A coincidence or an association?
Journal of the National Medical AssociationNarrative microstructure and macrostructure in adolescents with Down syndrome and Williams syndrome.
Frontiers in psychologyOne-stage relief of bilateral outflow tract obstruction and left main coronary ostial stenosis in an infant with Williams syndrome: the technique.
Multimedia manual of cardiothoracic surgery : MMCTSWilliams-Beuren syndrome case series with thinner fovea centralis and central corneal thicknesses.
Archivos de la Sociedad Espanola de OftalmologiaPhenotypical Characterization of Gastroenterological and Metabolic Manifestations in Patients With Williams-Beuren Syndrome.
American journal of medical genetics. Part AOrthotopic heart transplantation in patient with Williams syndrome: case report and considerations in perioperative and long-term management.
Cardiology in the youngSupravalvular aortic stenosis repair in a 3-year-old child with Williams syndrome using an interdigitating slide aortoplasty.
Multimedia manual of cardiothoracic surgery : MMCTSWilliams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.
Journal of child neurologyHome literacy environment and literacy outcomes in individuals with Williams syndrome and Down syndrome.
Journal of intellectual & developmental disabilityVisualization of complex mitral valve anatomy using real-time three-dimensional computer graphics.
The international journal of cardiovascular imagingMetabolic profiling reveals altered amino acid and fatty acid metabolism in children with Williams Syndrome.
Scientific reports[Long-COVID, severe course, with congenital bronchiectasis, Williams-Campbell syndrome. Case report].
Terapevticheskii arkhivA Prospective Open-Label Trial of Buspirone for the Treatment of Anxiety in Williams Syndrome.
Journal of child and adolescent psychopharmacologyA human forebrain organoid model reveals the essential function of GTF2IRD1-TTR-ERK axis for the neurodevelopmental deficits of Williams syndrome.
eLifeAssessment and Early Intervention in the Neonatal Intensive Care Unit for a Preterm Infant With Williams Syndrome.
CureusSurgical Treatment of Strabismus in Children With Developmental Delay: A Review of the Literature and Results of Personal Experience.
Journal of pediatric ophthalmology and strabismusPerceptual Experiences of Autistic People With an Intellectual Disability and People With Williams Syndrome: A Reflexive Thematic Analysis.
Journal of applied research in intellectual disabilities : JARIDLong-Latency Auditory Evoked Potentials in Adults with Williams Syndrome.
Journal of the American Academy of AudiologyDelineation of cross-domain associations between everyday executive function and adaptive behaviour in Down syndrome and Williams syndrome.
Scientific reportsNews insights into social cognition in Williams syndrome from a comprehensive assessment and a virtual reality task.
Scientific reportsOxytocin and our place in the universe.
Comprehensive psychoneuroendocrinologyUSP3 promotes DNA damage response and chemotherapy resistance through stabilizing and deubiquitinating SMARCA5 in prostate cancer.
Cell death & diseaseA Rare Co-occurrence of Williams Syndrome and 𝘛𝘕𝘒2 Gene-Related Epilepsy.
CureusSensory Processing Challenges in Children with Neurodevelopmental Disorders and Genetic Conditions: An Observational Study.
NeuroSci[Characteristics of early cognitive development in children with Williams syndrome: a prospective cohort study].
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatricsUnexpected and atypical clinical presentation of myocardial infarction in infants and children: complex pathogenesis of progressive and lethal disease.
Cardiology in the youngBehaviour and Psychopathology in Preschool Children with William Syndrome and the Effects of Age, Sex and Cognition.
Journal of autism and developmental disordersIdentifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping.
medRxiv : the preprint server for health sciencesRFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.
Journal of genetics and genomics = Yi chuan xue baoRegulation and signaling of the LIM domain kinases.
BioEssays : news and reviews in molecular, cellular and developmental biologyA multidisciplinary approach to managing severe scoliosis and cardiovascular complications in a patient with Williams syndrome: A rare report of a case.
Asian journal of surgeryThe Genetic Architecture of Congenital Heart Disease in Neonatal Intensive Care Unit Patients-The Experience of University Medical Centre, Ljubljana.
Life (Basel, Switzerland)Overuse of familiar phrases by individuals with Williams syndrome masks differences in language processing.
Journal of child languageBilateral ureteral obstruction after open ureteral reimplantation in a 3-year-old patient with Williams Beuren syndrome.
Radiology case reportsCharacterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.
Prenatal diagnosisClinical Care for Cardiovascular Disease in Patients With Williams-Beuren Syndrome.
Journal of the American Heart AssociationNoninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies.
Annals of medicineThe role of social motivation in sharing and fairness: insights from Williams syndrome.
Journal of neurodevelopmental disordersAutomated Multi-Class Facial Syndrome Classification Using Transfer Learning Techniques.
Bioengineering (Basel, Switzerland)Developmental process of the understanding of linguistic register in children: A comparison of typically developing children, autistic children, and children with Williams syndrome.
Autism research : official journal of the International Society for Autism ResearchClinical Findings in a Series of Thirty Eight Patients with Williams-Beuren Syndrome.
Cytogenetic and genome research7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.
Orphanet journal of rare diseasesInhibitory Systems in Brain Evolution: Pathways of Vulnerability in Neurodevelopmental Disorders.
Brain, behavior and evolutionHinchey III Diverticulitis in a 31-Year-Old Patient With Williams Syndrome: A Case Report.
CureusSymptoms of autism in Williams syndrome: a transdiagnostic approach.
Scientific reportsFacial recognition models for identifying genetic syndromes associated with pulmonary stenosis in children.
Postgraduate medical journalGastrointestinal manifestations in Williams syndrome: A prospective analysis of an adult and pediatric cohort.
American journal of medical genetics. Part AWilliams-Beuren syndrome diagnosis in an infant with atypical chromosome 7 microdeletion.
BMJ case reportsLevodopa-responsive dystonia, parkinsonism, and treatment-resistant schizoaffective disorder in Williams syndrome.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyA case of Williams syndrome with Wolff-Parkinson-White syndrome.
Birth defects researchThe anatomic repair of recurrent aortic arch obstruction in children and adolescents.
JTCVS openMultiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.
The Journal of clinical investigationComparison of the Accuracy in Provisional Diagnosis of 22q11.2 Deletion and Williams Syndromes by Facial Photos in Thai Population Between De-Identified Facial Program and Clinicians.
The application of clinical geneticsPeripheral Auditory Pathway and ABR Characterization in Adults with Williams Syndrome.
International archives of otorhinolaryngologySpatial exploration and navigation in Down syndrome and Williams syndrome.
Cortex; a journal devoted to the study of the nervous system and behaviorApproximating facial expression effects on diagnostic accuracy via generative AI in medical genetics.
Bioinformatics (Oxford, England)Increased heart rate fragmentation in those with Williams-Beuren syndrome suggests nonautonomic mechanistic contributors to sudden death risk.
American journal of physiology. Heart and circulatory physiologyLong-Term Outcomes of Individualized Repair in Patients with Supravalvular Aortic Stenosis.
Pediatric cardiologyHuman Genetics of Semilunar Valve and Aortic Arch Anomalies.
Advances in experimental medicine and biologyOptimization and evaluation of facial recognition models for Williams-Beuren syndrome.
European journal of pediatricsGeneration of two induced pluripotent stem cell lines from patients with Williams syndrome.
Stem cell researchCongenital heart defects and postoperative follow-up of patients with Williams syndrome as a single center experience and review of the cases from Türkiye.
The Turkish journal of pediatricsDevelopmental characteristics of Williams-Beuren syndrome and evaluation of adaptive behavioral skills.
Turkish journal of medical sciencesWhy do individuals with Williams syndrome or Down syndrome fail the Weather Prediction Task?
Developmental psychobiologyParental and Child Sleep: Children with Vision Impairment, Autistic Children, and Children with Comorbid Vision Impairment and Autism.
Brain sciencesCaregiver-reported barriers to care for children and adults with Williams Syndrome.
Journal of community geneticsThe Development of Socially Directed Attention: A Functional Magnetic Resonance Imaging Study in Infant Monkeys.
Journal of cognitive neuroscienceContrasting neurofunctional correlates of face- and visuospatial-processing in children and adolescents with Williams syndrome: convergent results from four fMRI paradigms.
Scientific reportsNumerical study of hemodynamic flow in the aortic vessel of Williams syndrome patient with congenital heart disease.
Journal of biomechanicsCase report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome.
Frontiers in endocrinologySpecificity of Early Childhood Hyperphagia Profiles in Neurogenetic Conditions.
American journal on intellectual and developmental disabilitiesCase Report: Rapid and progressive left ventricular endocardial calcification in an infant with Williams syndrome.
Frontiers in pediatricsIdentification of Prostaglandin I2 Synthase Rare Variants in Patients With Williams Syndrome and Severe Peripheral Pulmonary Stenosis.
Journal of the American Heart AssociationGenetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.
Journal of the American Heart AssociationUsing a community engaged research approach to develop the social skills training program for adults with Williams syndrome.
Journal of intellectual disabilities : JOIDMicroduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.
Journal of personalized medicineN -acetylcysteine for Trichotemnomania in an Adult Female With Williams Syndrome.
Journal of clinical psychopharmacologyDevelopment of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Clinical laboratoryCognitive strengths in neurodevelopmental disorders, conditions and differences: A critical review.
NeuropsychologiaCeliac Disease-Related Conditions: Who to Test?
GastroenterologyPatch aortoplasty for supravalvular aortic stenosis in an adult patient: A case report.
International journal of surgery case reportsNeuronal deletion of Gtf2i results in developmental microglial alterations in a mouse model related to Williams syndrome.
GliaPragmatic skills in people with Williams syndrome: the perception of families.
Orphanet journal of rare diseasesLoss of GTF2I promotes neuronal apoptosis and synaptic reduction in human cellular models of neurodevelopment.
Cell reportsNoninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
Prenatal diagnosis[Williams-Beuren syndrome: a retrospective study of a series of 11 cases at the Mohammed VI University Hospital in Marrakech].
The Pan African medical journalAltered pubertal timing in 7q11.23 copy number variations and associated genetic mechanisms.
iScienceWilliams-Beuren syndrome in pediatric T-cell acute lymphoblastic leukemia: A rare case report and review of literature.
MedicineMatrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.
Journal of the American Heart AssociationConcurrent predictors of mathematics achievement for 9-year-old children with Williams syndrome.
Scientific reportsComparison of the Sensory Profile Among Autistic Individuals and Individuals with Williams Syndrome.
Journal of autism and developmental disordersSyntaxin1A overexpression and pain insensitivity in individuals with 7q11.23 duplication syndrome.
JCI insightBuspirone for the treatment of anxiety in Williams syndrome: a retrospective chart review study.
Expert opinion on pharmacotherapyEvaluating the challenges and needs of parents caring for children with Williams syndrome: A preliminary study from Poland.
Research in developmental disabilitiesBrazilian growth charts for Williams-Beuren Syndrome at ages 2 to 18 years.
Jornal de pediatriaIncidental Diagnosis of Williams Syndrome in an Adult With Recurrent Hypercalcemia.
JCEM case reportsFatal cardiac dysfunction in a child with Williams syndrome.
Legal medicine (Tokyo, Japan)Early Communicative Development in Williams Syndrome: A Longitudinal Case Study.
Children (Basel, Switzerland)Strategies for the Surgical Management of Highly Aggressive Williams Syndrome Aortopathy: A Three Case Report.
Pediatric cardiologyNeuronal Gtf2i deletion alters mitochondrial and autophagic properties.
Communications biologyTransposons in the Williams-Beuren Syndrome Critical Region are Associated with Social Behavior in Assistance Dogs.
Behavior geneticsPsychiatric and behavioral manifestations of Williams syndrome.
Current opinion in psychiatry"Tardus-parvus waveform" the only initial clue to mid-aortic syndrome- a rare cause of youth onset hypertension: A case report and a comprehensive review.
Radiology case reportsOptical coherence tomography angiography findings in Williams-Beuren syndrome.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieOral language interventions can improve language outcomes in children with neurodevelopmental disorders: A systematic review and meta-analysis.
Campbell systematic reviewsAdult William's Syndrome: The Cause of an Unusual Vasculopathy and Biliary Abnormalities.
CureusThe results of genetic analysis and clinical outcomes after stent deployment in adult patients with isolated peripheral pulmonary artery stenosis.
The European respiratory journalDevelopment of emotion comprehension in children with autism spectrum disorder and Williams syndrome.
Autism research : official journal of the International Society for Autism ResearchElectrocardiograms Do Not Detect Myocardial Ischemia in Patients With Williams Syndrome and Nonsyndromic Elastin Arteriopathy With Coronary Artery Stenosis.
The American journal of cardiologyLongitudinal Predictors of Word Reading for Children with Williams Syndrome.
Reading and writingWilliams-Beuren syndrome shapes the gut microbiota metaproteome.
Scientific reportsPrenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review.
MedicineInternalising and Externalising Symptoms and Their Association with the Family Environment in Young Children with Williams Syndrome: A Longitudinal Study.
Children (Basel, Switzerland)No transfer of arousal from other's eyes in Williams syndrome.
Scientific reportsIntensive Care Unit Analgosedation After Cardiac Surgery in Children with Williams Syndrome : a Matched Case-Control Study.
Pediatric cardiologyLoss of Baz1b in mice causes perinatal lethality, growth failure, and variable multi-system outcomes.
Developmental biologyMultisensory Texture Perception in Individuals with Williams Syndrome.
Children (Basel, Switzerland)Parental attitudes and beliefs about sexuality of individuals with intellectual disability: Insights from a Brazilian sample of parents of individuals with Williams syndrome.
Journal of applied research in intellectual disabilities : JARIDDorsal visual stream and LIMK1: hemideletion, haplotype, and enduring effects in children with Williams syndrome.
Journal of neurodevelopmental disordersDeletion of Gtf2i via Systemic Administration of AAV-PHP.eB Virus Increases Social Behavior in a Mouse Model of a Neurodevelopmental Disorder.
BiomedicinesDistinct neuroanatomical and neuropsychological features of Down syndrome compared to related neurodevelopmental disorders: a systematic review.
Frontiers in neuroscienceAddressing fears of children with Williams syndrome: therapist and child behavior in the context of a novel play-and humor-infused exposure therapy approach.
Frontiers in psychologyNeuroimaging research in Williams syndrome: Beginning to bridge the gap with clinical care.
Neuroscience and biobehavioral reviewsOcular features in Williams-Beuren syndrome: a review of the literature.
Current opinion in ophthalmologyAortic Dissection and Supravalvular Aortic Stenosis With Williams Syndrome Complicated by Infection.
Annals of thoracic surgery short reportsDiversity of Participants in Williams Syndrome Intervention Studies.
Journal of autism and developmental disordersDissociable Cognitive Systems for Recognizing Places and Navigating through Them: Developmental and Neuropsychological Evidence.
The Journal of neuroscience : the official journal of the Society for NeuroscienceAnxiety, concerns and COVID-19: Cross-country perspectives from families and individuals with neurodevelopmental conditions.
Journal of global healthBody mass index variation in adults with Williams syndrome: associations with predicted dietary intake and food behaviors.
Food & nutrition researchFluorescence in situ hybridization (FISH) as an irreplaceable diagnostic tool for Williams-Beuren syndrome in developing countries: a literature review.
Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao PauloLethal Fungal Aortitis In Surgically Corrected Supravalvular Aortic Stenosis In A Child With Williams Syndrome.
Journal of Ayub Medical College, Abbottabad : JAMCCharacterization of the Zebrafish Elastin a (elnasa12235) Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects.
CellsInvestigating Cardiac Arrhythmias among Patients With Williams Syndrome in the United States: An Analysis Using the 2016 to 2020 National Inpatient Sample.
The American journal of cardiologyDysfunctional Mitochondria in the Cardiac Fibers of a Williams-Beuren Syndrome Mouse Model.
International journal of molecular sciencesExtensive characterization of a Williams syndrome murine model shows Gtf2ird1-mediated rescue of select sensorimotor tasks, but no effect on enhanced social behavior.
Genes, brain, and behaviorAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Centro de Genética Humana , Instituto de Ciências Biológicas, Universidade Federal de Goiás (CEGH-ICB/UFG)
Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Síndrome Williams e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Não há cura conhecida para a Síndrome Williams. O acompanhamento médico é focado no manejo preventivo dos problemas cardíacos e em intervenções de reabilitação para melhorar o desenvolvimento e a qualidade de vida.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
9 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Síndrome Williams. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-williams
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome Williams
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Ensaios clínicos
- fonte: ClinicalTrials.gov