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威廉斯综合征

Williams syndrome

ORPHA:904疾病中国目录 第1批 · 117

定义 英文原文（暂无中文）

A rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (e.g., joint laxity). Facial dysmorphism is characterized by a broad forehead, bitemporal narrowing, periorbital fullness, stellate and/or lacy iris pattern, short upturned nose with bulbous tip, long philtrum, wide mouth, full lips and mild micrognathia.

别名

Williams-Beuren综合征

基本事实

遗传方式
常染色体显性
发病年龄
产前、新生儿期
患病率
1-5 / 10 000（Norway）

相关基因 18

基因名称关联类型
RFC2replication factor C subunit 2Candidate gene tested in
BAZ1Bbromodomain adjacent to zinc finger domain 1BRole in the phenotype of
TBL2transducin beta like 2Role in the phenotype of
CLIP2CAP-Gly domain containing linker protein 2Role in the phenotype of
ELNelastinRole in the phenotype of
GTF2Igeneral transcription factor IIiRole in the phenotype of
GTF2IRD1GTF2I repeat domain containing 1Role in the phenotype of
LIMK1LIM domain kinase 1Role in the phenotype of
NCF1neutrophil cytosolic factor 1Role in the phenotype of
STX1Asyntaxin 1ARole in the phenotype of
FKBP6FKBP prolyl isomerase family member 6 (inactive)Role in the phenotype of
VPS37DVPS37D subunit of ESCRT-IRole in the phenotype of
DNAJC30DnaJ heat shock protein family (Hsp40) member C30Candidate gene tested in
EIF4Heukaryotic translation initiation factor 4HRole in the phenotype of
BUD23BUD23 rRNA methyltransferase and ribosome maturation factorRole in the phenotype of
METTL27methyltransferase like 27Role in the phenotype of
TMEM270transmembrane protein 270Role in the phenotype of
GTF2IRD2GTF2I repeat domain containing 2Role in the phenotype of

临床表型 186

极常见 99–80%49

  • 腹痛 HP:0002027
  • 神经系统形态异常 HP:0012639
  • 社会行为异常 HP:0012433
  • 锥体外系功能障碍 HP:0002071
  • 骨盆带骨形态异常 HP:0002644
  • 异常言语模式 HP:0002167
  • 心血管系统的任何异常。 HP:0001626
  • 颈部异常 HP:0000464
  • 声音异常 HP:0001608
  • 焦虑 HP:0000739
  • 共济失调 HP:0001251
  • 眼睑裂狭小 HP:0000581
  • 宽前额 HP:0000337
  • 面容粗糙 HP:0000280
  • 抑郁 HP:0000716
  • 书写困难 HP:0010526
  • 辨距不良 HP:0001310
  • 小精灵脸 HP:0004428
  • 内眦赘皮 HP:0000286
  • 下唇唇红外翻 HP:0000232
  • 婴儿期生长障碍 HP:0001531
  • 步态异常 HP:0001288
  • 步态失平衡 HP:0002141
  • 额头高 HP:0000348
  • 高度远视 HP:0008499
  • 声音嘶哑 HP:0001609
  • 听觉过敏 HP:0010780
  • 高钙血症 HP:0003072
  • 反射亢进 HP:0001347
  • 智力障碍 HP:0001249
  • 不自主运动 HP:0004305
  • 长人中 HP:0000343
  • 巨舌症 HP:0000158
  • 巨耳畸形 HP:0000400
  • 小下颌 HP:0000347
  • 脸狭窄 HP:0000275
  • 开牙合 HP:0010807
  • 过度友善 HP:0100025
  • 眶周水肿 HP:0100539
  • 声音恐惧 HP:0002183
  • 尖下巴 HP:0000307
  • 后旋耳 HP:0000358
  • 招风耳 HP:0000411
  • 短鼻 HP:0003196
  • 身材矮小 HP:0004322
  • 厚下红唇 HP:0000179
  • 震颤 HP:0001337
  • 宽嘴 HP:0000154
  • 宽鼻梁 HP:0000431

常见 79–30%53

  • 牙齿形态异常 HP:0006482
  • 指甲形态异常 HP:0001231
  • 牙釉质形态异常 HP:0000682
  • 膀胱异常 HP:0000014
  • 脑血管形态异常 HP:0100659
  • 动脉狭窄 HP:0100545
  • 关节疼痛 HP:0002829
  • 注意力缺陷多动障碍 HP:0007018
  • 孤独症 HP:0000717
  • 脑缺血 HP:0002637
  • 慢性中耳炎 HP:0000389
  • 第五指屈指畸形 HP:0004209
  • 结肠憩室 HP:0002253
  • 强迫行为 HP:0000722
  • 便秘 HP:0002019
  • 牙齿错位咬合 HP:0000689
  • 肩下斜 HP:0200021
  • 血清肌酸磷酸激酶升高 HP:0003236
  • 膝外翻 HP:0002857
  • 拇趾外翻 HP:0001822
  • 高钙尿症 HP:0002150
  • 脊柱前凸过度 HP:0003307
  • 高血压 HP:0000822
  • 缺牙症 HP:0000668
  • 颧骨发育不良 HP:0010669
  • 趾甲发育不良 HP:0001800
  • 肌张力减退 HP:0001252
  • 腹股沟疝 HP:0000023
  • 失眠 HP:0100785
  • 关节僵硬 HP:0001387
  • 脊柱后凸畸形（驼背） HP:0002808
  • 小头畸形 HP:0000252
  • 小牙畸形 HP:0000691
  • 二尖瓣反流 HP:0001653
  • 二尖瓣脱垂 HP:0001634
  • 恶心和呕吐 HP:0002017
  • 眼球震颤诱导点头运动 HP:0001361
  • 肥胖 HP:0001513
  • 盆腔肾 HP:0000125
  • 周围肺动脉狭窄 HP:0004969
  • 扁平足 HP:0001763
  • 蛋白尿 HP:0000093
  • 肺动脉瓣狭窄 HP:0001642
  • 赘肉 HP:0001582
  • 肾功能不全 HP:0000083
  • 肾血管性高血压 HP:0100817
  • 骶骨浅窝 HP:0000960
  • 感音神经性听力受损 HP:0000407
  • 痉挛 HP:0001257
  • 斜视 HP:0000486
  • 卒中 HP:0001297
  • 主动脉瓣上狭窄 HP:0004381
  • 视觉障碍 HP:0000505

偶见 29–5%84

  • 心脏间隔异常 HP:0001671
  • 脂代谢异常 HP:0003119
  • 皮纹异常 HP:0007477
  • 椎体形态异常 HP:0003312
  • 脚踝异常 HP:0003028
  • 颈动脉形态异常 HP:0005344
  • 间脑形态异常 HP:0010662
  • 心内膜形态异常 HP:0004306
  • 胃黏膜形态异常 HP:0004295
  • 拇指内收 HP:0001181
  • 虹膜发育缺陷/不全 HP:0008053
  • 房间隔缺损 HP:0001631
  • 累及皮质脊髓束的萎缩/退化 HP:0007372
  • 二叶主动脉瓣 HP:0001647
  • 膀胱憩室 HP:0000015
  • 蓝色虹膜 HP:0000635
  • 心脏扩大 HP:0001640
  • 龋齿 HP:0000670
  • 白内障 HP:0000518
  • 大脑皮层萎缩 HP:0002120
  • 小脑扁桃体下疝畸形 HP:0002308
  • 胆石症 HP:0001081
  • 充血性心力衰竭 HP:0001635
  • 角膜混浊 HP:0007957
  • 隐睾 HP:0000028
  • 成年早期死亡 HP:0100613
  • 骨成熟延迟 HP:0002750
  • 发育倒退 HP:0002376
  • 主动脉弓部瘤 HP:0005113
  • 构音障碍 HP:0001260
  • 发音困难 HP:0001618
  • 扁平角膜 HP:0007720
  • 男性内生殖器功能异常 HP:0000025
  • 胃食管反流 HP:0002020
  • 牙龈增生 HP:0000212
  • 青光眼 HP:0000501
  • 肥厚型心肌病 HP:0001639
  • 低促性腺激素性性腺功能减退症 HP:0000044
  • 阴茎发育不良 HP:0008736
  • 甲状腺功能减退症 HP:0000821
  • 骨密度增加 HP:0011001
  • 颈部透明层厚度增加 HP:0010880
  • 关节过度活动 HP:0001382
  • 泪液分泌异常 HP:0000632
  • 吸收不良 HP:0002024
  • 巨角膜 HP:0000485
  • 多发性肾囊肿 HP:0005562
  • 心肌梗死 HP:0001658
  • 肌病 HP:0003198
  • 近视 HP:0000545
  • 肾钙质沉着症 HP:0000121
  • 肾结石 HP:0000787
  • 鲜红斑痣 HP:0001052
  • 骨质减少 HP:0000938
  • 骨质疏松 HP:0000939
  • 主动脉骑跨 HP:0002623
  • 髌骨脱位 HP:0002999
  • 动脉导管未闭 HP:0001643
  • 漏斗胸 HP:0000767
  • 消化性溃疡 HP:0004398
  • 多囊卵巢 HP:0000147
  • 后胚胎环 HP:0000627
  • 性早熟 HP:0000826
  • 早衰面容 HP:0007495
  • 桡尺骨融合 HP:0002974
  • 直肠脱垂 HP:0002035
  • 反复呼吸道感染 HP:0002205
  • 复发性尿路感染 HP:0000010
  • 肾重复 HP:0000075
  • 肾发育不全 HP:0000089
  • 视网膜小动脉迂曲 HP:0001136
  • 脊柱侧弯 HP:0002650
  • 隐性脊柱裂 HP:0003298
  • 心脏性猝死 HP:0001645
  • 关节骨性联接 HP:0100240
  • 法洛四联症 HP:0001636
  • 气管食管瘘 HP:0002575
  • 肾小管间质形态异常 HP:0001969
  • 2型糖尿病 HP:0005978
  • 脐疝 HP:0001537
  • 尿道狭窄 HP:0008661
  • 室间隔缺损 HP:0001629
  • 椎体分节缺陷 HP:0003422
  • 膀胱输尿管返流 HP:0000076

近两年的全球研究 534L2

2024/10 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-10开放获取
    Predictors of chronic kidney disease in children who underwent surgical correction of congenital heart disease: a long-term follow-up cohort study
    Jornal brasileiro de nefrologia · DOI · Europe PMC
  • 2026-09
    Domains of self-regulation in autism, Down syndrome, and Williams syndrome: Condition-specific or transdiagnostic?
    Research in developmental disabilities · DOI · Europe PMC
  • 2026-09
    [Analysis of oral health status in Chinese children with Williams syndrome]
    Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chi · DOI · Europe PMC
  • 2026-09综述开放获取
    Psychological Issues Among Caregivers of Children with Neurodevelopmental Disorders: A Scoping Review
    Brain sciences · DOI · Europe PMC
  • 2026-09
    Feasibility of Functional Near-Infrared Spectroscopy in Assessing Prefrontal Cortical Activation During Behaviour Inhibition in Williams Syndrome
    Journal of intellectual disability research : JIDR · DOI · Europe PMC
  • 2026-09综述开放获取
    Coronary Arterial Anomalies in Adults with Congenital Heart Disease: From Detection to Management Strategies
    Journal of cardiovascular development and disease · DOI · Europe PMC
  • 2026-09开放获取
    Systematic CRISPRi perturbation of 1,408 autism risk genes maps multilevel transcriptional convergence in human cortical neurons
    bioRxiv : the preprint server for biology
  • 2026-09开放获取
    Connective tissue and genetics in the pathogenesis of rectal prolapse: A scoping review
    Colorectal disease : the official journal of the Association of Colopr · DOI · Europe PMC
  • 2026-09开放获取
    'Let's Just Hope for the Best': A Photovoice Study Exploring the Impact of Covid-19 Restrictions on Children With Intellectual Disabilities in the UK
    Journal of applied research in intellectual disabilities : JARID · DOI · Europe PMC
  • 2026-09综述病例报告
    [Analysis of the prenatal and postnatal clinical features of six cases of Williams syndrome and a literature review]
    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi · DOI · Europe PMC
  • 2026-09开放获取
    Evaluating the Visible Difference Parenting Toolkit: an ACT-based intervention to improve parental/carer stress and psychosocial well-being of carers of children with appearance affecting conditions and injuries
    Journal of pediatric psychology · DOI · Europe PMC
  • 2026-08综述开放获取
    Histone modifications: mechanisms, metabolic regulation, and therapeutic targeting in cancer
    Precision clinical medicine · DOI · Europe PMC
  • 2026-08病例报告开放获取
    Pathophysiology-Driven Anesthetic Management of Williams Syndrome for Combined Oral Surgery: A Case Report
    Cureus · DOI · Europe PMC
  • 2026-08病例报告开放获取
    Idiopathic Midaortic Syndrome: An Unusual Case of Acute Kidney Injury (AKI) in Secondary Hypertension With Renal Collaterals in an Adult
    Cureus · DOI · Europe PMC
  • 2026-08综述开放获取
    Cerebellar Contributions to Cerebral Connectivity in Severe Mental Illness: A Developmental Cascade and Predictive-Modeling Framework with Autistic Disorder as the Focal Case
    Brain sciences · DOI · Europe PMC
  • 2026-08开放获取
    Chinese expert consensus on the treatment and diagnosis of moyamoya disease and moyamoya syndrome (2024)
    Stroke and vascular neurology · DOI · Europe PMC
  • 2026-08
    Statistical power in UK genetic syndrome research; evidence from studies of Down syndrome, Fragile X syndrome and Williams syndrome as model syndrome groups
    The British journal of developmental psychology · DOI · Europe PMC
  • 2026-08开放获取
    Disrupting fzd9b in Zebrafish Recapitulates Stress- and Anxiety-Like Behaviours Relevant to Williams Syndrome
    Molecular neurobiology · DOI · Europe PMC
  • 2026-08开放获取
    Vaso-active inotropic scores: Clinical value, pros and cons
    JHLT open · DOI · Europe PMC
  • 2026-08开放获取
    Central Precocious Puberty in Williams Syndrome: Two Cases Illustrating Diagnostic Challenges and Individualized Management
    Clinical case reports · DOI · Europe PMC

在中国开展的临床试验 2L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

登记为可入组 1

  • 尚未开始招募NCT07509879
    Research on the Molecular Mechanism of Cognitive Differences Between Williams Syndrome and Autism Spectrum Disorder
    观察性 · 2026/04/01Qilu Hospital of Shandong University
    中国研究中心 1 个：Jinan
其他状态的试验（1 项）
  • 已完成NCT06315699
    Clemastine Fumarate in the Treatment of Neurodevelopmental Delays in Williams Syndrome
    II 期 · 干预性 · 2024/03/20Qilu Hospital of Shandong University
    中国研究中心 1 个：Tainan

中国境外的在招试验 11L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

美国5法国2荷兰1澳大利亚1以色列1

CT.gov 报告命中 11 项，此处取回并展示最近的 10 项。

  • 招募中NCT07469566
    Characterization of the Natural History of Microduplication Syndrome 7q11.23
    不适用 · 干预性 · 2026/07/15Hospices Civils de Lyon
    法国
  • 尚未开始招募NCT07537374
    A Case-Control Observational Study of Peripheral Blood-Derived iPSC Models to Investigate Oligodendrocyte Lineage Development in Children With Williams Syndrome and Healthy Controls
    观察性 · 2026/04/01Qilu Hospital of Shandong University
  • 招募中NCT07493096
    Intensive Multimodal Neurorehabilitation Targeting Neuroplasticity in Pediatric Neurodevelopmental and Chromosomal Disorders
    观察性 · 2026/03/01Healing Hope International
    美国
  • 招募中NCT06740162
    Physical Activity and Community EmPOWERment Project
    不适用 · 干预性 · 2025/01/10University of North Carolina, Chapel Hill
    美国
  • 招募中NCT06930417
    Characterization and Natural History of Williams Syndrome and Other Chromosome 7q11.23 Variants
    观察性 · 2024/10/21University of Pennsylvania
    美国
  • 招募中NCT07285720
    Phonological Constraints on Language Development in Individuals With Williams Syndrome
    不适用 · 干预性 · 2024/07/05Centre Hospitalier Universitaire, Amiens
    法国
  • 招募中NCT04463316
    GROWing Up With Rare GENEtic Syndromes
    观察性 · 2018/10/01dr. Laura C. G. de Graaff-Herder
    荷兰
  • 招募中NCT01132885
    Defining the Brain Phenotype of Children With Williams Syndrome
    观察性 · 2011/01/23National Institute of Mental Health (NIMH)
    美国
  • 招募中NCT01793168
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
    观察性 · 2010/07Sanford Health
    澳大利亚、美国
  • 招募中NCT00768820
    The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
    IV 期 · 干预性 · 2001/05The Chaim Sheba Medical Center
    以色列

外部标识与链接

OrphanetOMIM:194050MONDO:0008678GARD:7891ICD-10 Q93.8ICD-11 LD44.70ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）