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Marfan syndrome

ORPHA:558疾病中国目录 第1批 · 68

定义 英文原文（暂无中文）

Marfan syndrome is a systemic disease of connective tissue characterized by a variable combination of cardiovascular, musculo-skeletal, ophthalmic and pulmonary manifestations.

别名

MFS

基本事实

遗传方式
常染色体显性
发病年龄
各年龄段
患病率
1-5 / 10 000（Europe）

相关基因 1来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因名称来源条目
FBN1fibrillin 1ORPHA:284979

临床表型 68

极常见 99–80%10

  • 主动脉瘤 HP:0004942
  • 主动脉根部瘤 HP:0002616
  • 细长指(趾) HP:0001166
  • 慢性疲劳 HP:0012432
  • 不成比例的高身材 HP:0001519
  • 鸡胸 HP:0000768
  • 扁平足 HP:0001763
  • 修长的身材 HP:0001533
  • 自发性气胸 HP:0002108
  • 萎缩纹 HP:0001065

常见 79–30%24

  • 颧骨形态异常 HP:0010668
  • 主动脉夹层 HP:0002647
  • 主动脉瓣反流 HP:0001659
  • 关节痛/关节炎 HP:0005059
  • 生主动脉动脉瘤 HP:0004970
  • 牙列拥挤 HP:0000678
  • 硬膜扩张 HP:0100775
  • 晶状体异位 HP:0001083
  • 腭高而窄 HP:0002705
  • 眼球轴长度增加 HP:0007800
  • 关节过度活动 HP:0001382
  • 晶状体脱位 HP:0012019
  • 晶状体半脱位 HP:0001132
  • 二尖瓣反流 HP:0001653
  • 二尖瓣脱垂 HP:0001634
  • 近视 HP:0000545
  • 脸狭窄 HP:0000275
  • 漏斗胸 HP:0000767
  • 髋臼内陷 HP:0003179
  • 脊柱侧弯 HP:0002650
  • 睡眠异常 HP:0002360
  • 睡眠呼吸暂停 HP:0010535
  • 三尖瓣脱垂 HP:0001704
  • 视觉障碍 HP:0000505

偶见 29–5%34

  • 左心室功能异常 HP:0005162
  • 主动脉迂曲 HP:0006687
  • 动脉夹层 HP:0005294
  • 注意力缺陷多动障碍 HP:0007018
  • 恶病质 HP:0004326
  • 腭裂 HP:0000175
  • 充血性心力衰竭 HP:0001635
  • 腹部动脉扩张 HP:0002636
  • 长头畸形 HP:0000268
  • 下斜睑裂 HP:0000494
  • 气肿 HP:0002097
  • 扁平角膜 HP:0007720
  • 青光眼 HP:0000501
  • 咯血 HP:0002105
  • 虹膜发育不全 HP:0007676
  • 肌张力减退 HP:0001252
  • 腹股沟疝 HP:0000023
  • 失眠 HP:0100785
  • 脊柱后凸畸形（驼背） HP:0002808
  • 肘运动受限 HP:0002996
  • 脑脊膜膨出 HP:0002435
  • 小下颌 HP:0000347
  • 二尖瓣钙化 HP:0004382
  • 肌痛 HP:0003326
  • 开牙合 HP:0010807
  • 骨质减少 HP:0000938
  • 骨质疏松 HP:0000939
  • 肺动脉扩张 HP:0004927
  • 骨密度降低 HP:0004349
  • 视网膜脱离 HP:0000541
  • 下颌后缩 HP:0000278
  • 骨骼肌萎缩 HP:0003202
  • 脊椎滑脱症 HP:0003302
  • 室性心动过速 HP:0004756

近两年的全球研究 2,610L2

2024/08 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。

  • 2026-08病例报告
    Coexistence of Neurofibromatosis Type 1 and Marfan Syndrome in a 13-Year-Old Boy: A Case Report
    The American journal of case reports · DOI · Europe PMC
  • 2026-08
    Lymphatic therapies open the valve in Marfan syndrome
    The Journal of clinical investigation · DOI · Europe PMC
  • 2026-07病例报告
    Emergency Bentall procedure at 15 weeks' gestation for giant aortic root aneurysm in Marfan syndrome: a case report
    European heart journal. Case reports · DOI · Europe PMC
  • 2026-07
    Patient-Specific Fluid-Structure Interaction Simulations Suggest Wall-Shear-Stress-Related Biomarkers in Type B Dissection Associated with Marfan Syndrome
    Annals of biomedical engineering · DOI · Europe PMC
  • 2026-07
    Type B aortic dissection following personalized external aortic root support (PEARS): a report of two cases
    Journal of cardiothoracic surgery · DOI · Europe PMC
  • 2026-07
    Sex-Specific Cardiovascular Phenotypes in Marfan Syndrome
    JACC. Advances · DOI · Europe PMC
  • 2026-07
    Dysregulated proteins in plasma distinguishing Loeys-Dietz syndrome from other heritable thoracic aortic disease - an explorative study
    Scandinavian cardiovascular journal : SCJ · DOI · Europe PMC
  • 2026-07
    Surgical outcomes of Yamane intrascleral lens fixation technique in pediatric patients
    Journal of AAPOS : the official publication of the American Associatio · DOI · Europe PMC
  • 2026-07
    Assessment of Hip Joint Articular Cartilage Composition in People with Marfan Syndrome Utilizing T1ρ and T2 Mapping
    HSS journal : the musculoskeletal journal of Hospital for Special Surg · DOI · Europe PMC
  • 2026-07病例报告
    Spontaneous Vertebral Artery Dissection as the Heralding Manifestation of Previously Undiagnosed Marfan Syndrome in a Young Adult with Posterior Circulation Stroke: A Case Report
    Reports (MDPI) · DOI · Europe PMC
  • 2026-07
    The Effect of Exercise on Quality of Life in Patients With Thoracic Aortic Disease Pre- and Post-Surgery: A SCOPING REVIEW
    Journal of cardiopulmonary rehabilitation and prevention · DOI · Europe PMC
  • 2026-07
    Extra-Mitral Abnormalities in Nonsyndromic Mitral Valve Prolapse Assessed by Means of Cardiovascular Magnetic Resonance
    The Canadian journal of cardiology · DOI · Europe PMC
  • 2026-07
    Outcomes of Thoracic Endovascular Aortic Repair for Thoracic Aortic Disease in Patients with Connective Tissue Disorders: Insights from the Vascular Quality Initiative
    Annals of vascular surgery · DOI · Europe PMC
  • 2026-07
    "Y sign" as an anatomical finding associated with severe hypotension in the prone position: illustrative cases
    Journal of neurosurgery. Case lessons · DOI · Europe PMC
  • 2026-07
    Cardiovascular involvement and outcomes in Marfan syndrome: new observations on evolving aortic risk associations in a single-center cohort from Poland
    Polish archives of internal medicine · DOI · Europe PMC
  • 2026-07综述
    Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review
    Journal of clinical medicine · DOI · Europe PMC
  • 2026-07
    Bracing for Success: Long-term Patient-reported Outcomes of Bracing Therapy for Pectus Carinatum
    The Journal of surgical research · DOI · Europe PMC
  • 2026-07
    Sex-Dependent Vascular Responses to Atorvastatin Across Multiple Arterial Beds in a Mouse Model of Marfan Syndrome
    Cells · DOI · Europe PMC
  • 2026-07
    Fibronectin-induced overactivation of α<sub>V</sub>β<sub>3</sub>-PI3K-PIP3-PDK1-ILK signaling drives aortic disease in Marfan syndrome
    Nature communications · DOI · Europe PMC
  • 2026-07
    Anterior sacral meningocele with S1 root incarceration: Marfan syndrome and its surgical management. Illustrative case
    Journal of neurosurgery. Case lessons · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

已获孤儿药资格、尚未获批的在研药物（3 项）

孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。

  • allopurinol欧盟2025-03-25
    Treatment of Marfan syndrome
    官方记录
  • losartan美国2011-12-12
    Treatment of Marfan Syndrome
    官方记录
  • enzastaurin美国2025-04-14
    treatment of Marfan syndrome
    官方记录

数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。

在中国开展的临床试验 3L2

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

  • 招募中NCT07672210
    PregnAncy-Related Aortic DISsEction in China
    观察性 · 2026/03/17DeltaHealth Hospital · Shanghai
    中国研究中心 4 个：Beijing、Guangzhou、Shanghai、Wuhan
其他状态的试验（2 项）
  • 状态未知NCT05578469
    Surgical Treatment of Marfan Syndrome With Subluxation Lens
    观察性 · 2016/01/01Second Affiliated Hospital, Zhejiang University, School of Medicine
    中国研究中心 1 个：Hangzhou
  • 已完成NCT07008274
    Laparoscopic Sleeve Gastrectomy-Induced Decline in Plasma Asprosin and Its Association With Metabolic Recovery
    观察性 · 2021/01/01Northern Jiangsu People's Hospital
    中国研究中心 1 个：Yangzhou

中国境外的在招试验 17L2

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。

意大利3法国3土耳其2美国2波兰1西班牙1巴西1

CT.gov 报告命中 17 项，此处取回并展示最近的 15 项。

  • 尚未开始招募NCT07358533
    Metabolic Obesity in Normal Weight (MONW): Diagnostic Markers Stud
    观察性 · 2026/09Pomeranian Medical University Szczecin
    波兰
  • 尚未开始招募NCT07591844
    Effect of Periodontal Therapy on Asprosin in Stable Angina
    不适用 · 干预性 · 2026/05/20Ondokuz Mayıs University
    土耳其
  • 尚未开始招募NCT07495267
    Nutritional Ketosis Marfan
    不适用 · 干预性 · 2026/03/13Washington University School of Medicine
  • 尚未开始招募NCT07419386
    Clinical and Psychosocial Factors Associated With Physical Activity Level in Adults With Marfan Syndrome
    观察性 · 2026/02/22University of Oviedo
    西班牙
  • 尚未开始招募NCT07169669
    Multicentre Longitudinal Study of Bone Mineralisation Characteristics in Marfan Syndrome and Ehlers-Danlos Syndrome
    观察性 · 2025/10/31IRCCS Policlinico S. Donato
  • 招募中NCT06546137
    National Network for Cardiovascular Genomics: Advancing Cardiovascular Healthcare for Hereditary Diseases in Brazil's Unified Health System Through a Multicenter Registry
    观察性 · 2025/04/30Hospital do Coracao
    巴西
  • 尚未开始招募NCT06735313
    Changes in Salivary Asprosin, IL-39, IL-40 and IL-1β Levels in Diabetic Patients with Periodontitis
    不适用 · 干预性 · 2025/01/10Necmettin Erbakan University
    土耳其
  • 尚未开始招募NCT06592560
    Asprosin in Breast Cancer
    观察性 · 2024/10Marina Hanna Thabet Ghobrial
  • 招募中NCT06782230
    ScATtEred Rare Disease Biobanks: a Model of Sample/Data Collection With susTainablE and Shared Criteria
    观察性 · 2024/08/31IRCCS Policlinico S. Donato
    意大利
  • 招募中NCT06720883
    Robotically Assisted Surgery For Perihilar Cholangiocarcinoma: A Prospective Study
    观察性 · 2024/06/07Azienda Ospedaliera di Padova
    意大利
  • 招募中NCT05809323
    Marfan Syndrome Moderate Exercise Trial II
    不适用 · 干预性 · 2023/09/01Baylor College of Medicine
    美国
  • 招募中NCT05838235
    Adapted Physical Activity Program (APA) for Effort Rehabilitation of Children and Teenagers With Marfan Syndrome
    不适用 · 干预性 · 2023/04/24University Hospital, Toulouse
    法国
  • 招募中NCT05702476
    Marfan Syndrome (MFS) and Facial Dysmorphism: Non-invasive 3D Assessment
    观察性 · 2023/01/09IRCCS Policlinico S. Donato
    意大利
  • 招募中NCT04970459
    Biological Collection for Marfan and Related Syndromes
    观察性 · 2022/01/24University Hospital, Toulouse
    法国
  • 招募中NCT04194619
    Pregnancy in Women With Rare Multisystemic Vascular Diseases: COGRare5 Study
    观察性 · 2020/02/06Hospices Civils de Lyon
    法国

外部标识与链接

OrphanetOMIM:154700OMIM:610168MONDO:0007947ICD-10 Q87.4ICD-11 LD28.01ClinicalTrials.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）