Prader-Willi综合征

Prader-Willi syndrome

定义英文原文（暂无中文）

A rare genetic, neurodevelopmental syndrome characterized by hypothalamic-pituitary dysfunction with severe hypotonia and feeding deficits during the neonatal period followed by an excessive weight gain period with hyperphagia with a risk of severe obesity during childhood and adulthood, learning difficulties, deficits of social skills and behavioral problems or severe psychiatric problems.

别名

Prader-Labhart-Willi综合征

基本事实

遗传方式: 常染色体显性、不适用
发病年龄: 产前、新生儿期
患病率: 1-9 / 100 000

临床表型 90

极常见 99–80%10

异常发脾气 HP:0025160
焦虑 HP:0000739
隐睾 HP:0000028
吞咽困难 HP:0002015
婴儿期喂养困难 HP:0008872
生长延迟 HP:0001510
肌张力减退 HP:0001252
不孕症/不育症 HP:0000789
运动发育迟缓 HP:0001270
身材矮小 HP:0004322

常见 79–30%54

腹型肥胖 HP:0012743
面部形状异常 HP:0001999
快速眼动期睡眠异常 HP:0002494
牙列异常 HP:0000164
骨骼成熟加速 HP:0005616
注意力缺陷多动障碍 HP:0007018
非典型行为 HP:0000708
脑成像异常 HP:0410263
中枢性睡眠呼吸暂停 HP:0010536
阴蒂发育不良 HP:0000060
循环系统促性腺激素浓度降低 HP:0030339
胎动减少 HP:0001558
生长激素刺激试验反应降低 HP:0000824
睾丸体积过小 HP:0008734
青春期发育延迟 HP:0000823
语言发育迟缓 HP:0000750
牙列拥挤 HP:0000678
水肿 HP:0000969
牙釉质发育不全 HP:0006297
丹毒 HP:0001055
外生殖器发育不良 HP:0003241
发育迟滞 HP:0001508
胃轻瘫 HP:0002578
远视 HP:0000540
性腺功能减退症 HP:0000135
毛发色素减退 HP:0005599
皮肤色素减退 HP:0001010
大阴唇发育不良 HP:0000059
小阴唇发育不良 HP:0000064
腱反射减弱 HP:0001265
温度觉障碍 HP:0010829
骨折易感性增加 HP:0002659
边缘状态智力障碍 HP:0006889
轻度智力障碍 HP:0001256
近视 HP:0000545
阻塞性睡眠呼吸暂停 HP:0002870
骨质减少 HP:0000938
骨质疏松 HP:0000939
牙周炎 HP:0000704
外侧裂周区多小脑回 HP:0012650
多食 HP:0002591
吸吮无力 HP:0002033
原发性闭经 HP:0000786
反复呼吸道感染 HP:0002205
循环生长激素水平降低 HP:0034323
脊柱侧弯 HP:0002650
短足 HP:0001773
小手 HP:0200055
垂体缩小 HP:0012506
小阴囊 HP:0000046
特定的学习障碍 HP:0001328
斜视 HP:0000486
巨脑室 HP:0002119
哭声微弱 HP:0001612

偶见 29–5%24

脑白质形态异常 HP:0002500
促肾上腺皮质激素不足 HP:0011748
杏仁状睑裂 HP:0007874
自闭症行为 HP:0000729
中枢性甲状腺功能减退症 HP:0011787
循环抑制素B水平降低 HP:0031100
嘴角下弯 HP:0002714
日间睡眠增多 HP:0001262
胃食管反流 HP:0002020
髋关节发育不良 HP:0001385
高血压 HP:0000822
中度智力障碍 HP:0002342
鼻梁狭窄 HP:0000446
婴儿期鼻胃管饲 HP:0011470
垂体性甲状腺功能减退症 HP:0008245
肾上腺功能早现 HP:0012412
阴毛早现 HP:0012411
精神病 HP:0000709
癫痫发作 HP:0001250
皮肤剔除 HP:0012166
卒中 HP:0001297
2型糖尿病 HP:0005978
呕吐 HP:0002013
口腔干燥 HP:0000217

罕见 <4–1%2

中枢性肾上腺功能不全 HP:0011734
性早熟 HP:0000826

近两年的全球研究 1,450L2

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
IMPROVE 2025: The 3rd International Meeting on Pathway-Related Obesity: Vision & Evidence
Clinical obesity · DOI · Europe PMC
2026-09综述开放获取
Hypothalamic obesity in pediatric vs. adult craniopharyngioma: mechanisms, management, and cardiometabolic outcomes
Pituitary · DOI · Europe PMC
2026-09
Magel2-null mice demonstrate contradictory outcomes in body weight, impulsivity, and motivation during distinct fasted states
Journal of psychiatric research · DOI · Europe PMC
2026-09开放获取
Differential methylation at novel putative imprinting control regions on chromosome 20 associated with childhood obesity
Epigenetics · DOI · Europe PMC
2026-09
Relationship between Aberrant Behavior Checklist (ABC) scores, hyperphagia, and quality of life in youth with Prader-Willi syndrome
Journal of psychiatric research · DOI · Europe PMC
2026-09
Early identification of Prader-Willi syndrome in newborns using facial phenotype-based machine learning
Pediatric research · DOI · Europe PMC
2026-09开放获取
Role of Snord116 in pituitary growth hormone deficiency of Prader-Willi syndrome
JCI insight · DOI · Europe PMC
2026-09综述
Targeted Epigenetic Reactivation strategies as new treatments for Prader-Willi Syndrome: Achievements and Challenges
Molecular therapy : the journal of the American Society of Gene Therap · DOI · Europe PMC
2026-09
Spinal Fusion in Prader-Willi Syndrome: Early Radiographic Outcomes and Complications With a Subset Analysis of Two-year Follow-up in a Multicenter Cohort
Journal of pediatric orthopedics · DOI · Europe PMC
2026-09病例报告开放获取
Child with genetically confirmed Prader-Willi syndrome
BMJ case reports · DOI · Europe PMC
2026-09病例报告
Sustained weight loss exceeding 100 kg with sequential incretin-based therapy in Prader-Willi syndrome
JCEM case reports · DOI · Europe PMC
2026-09病例报告开放获取
Sustained weight loss exceeding 100 kg with sequential incretin-based therapy in Prader–Willi syndrome
JCEM case reports
2026-09综述开放获取
Obesity, Oxidative Stress, and Inflammation in Precocious Puberty: Do All Roads Lead to the Hypothalamus?
International journal of molecular sciences · DOI · Europe PMC
2026-09综述开放获取
3D Genome Engineering Using CRISPR/dCas Systems
International journal of molecular sciences · DOI · Europe PMC
2026-09开放获取
Therapeutic Switching of Biological Drugs in Paediatric Severe Asthma: Experience of a Referral Centre
Biomedicines · DOI · Europe PMC
2026-09开放获取
Cardiometabolic and atherosclerotic cardiovascular disease outcomes associated with tirzepatide: insights from a 1-year multicenter observational study
Journal of the Endocrine Society · DOI · Europe PMC
2026-09开放获取
Developing Growth Reference Curves for Jordanian Children and Adolescents: A Comparative Analysis with WHO Growth Standards and References
Healthcare (Basel, Switzerland) · DOI · Europe PMC
2026-09综述开放获取
Metabolic Dysfunction-Associated Steatotic Liver Disease in Childhood: From Disease Heterogeneity to Personalized Care
Journal of personalized medicine · DOI · Europe PMC
2026-09
Letrozole combined with recombinant human growth hormone for Prader-Willi syndrome with concurrent central precocious puberty: an experimental therapeutic approach
Endokrynologia Polska · DOI · Europe PMC
2026-09
An exploratory retrospective analysis of concurrent metabolic and behavioral change in Prader-Willi syndrome during interdisciplinary inpatient stabilization
Journal of psychiatric research · DOI · Europe PMC

境外已获批用于本病的药物 3L2

欧盟 1 项、美国 2 项。同一药物在两地各批一次的，会分别列出。

「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。

药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。

Omnitrope欧盟2006-04-12
somatropin
官方记录
Genotropin美国2000-06-20
Somatropin [rDNA]
官方记录
Vykat XR美国2025-03-26
diazoxide choline
官方记录

尚未获批的在研药物（25 项）

这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。

Oxytocin欧盟2014-07-29
Treatment of Prader-Willi syndrome
官方记录
setmelanotide欧盟2016-06-27
Treatment of Prader-Willi syndrome
官方记录
Viokat欧盟2017-10-12
diazoxide choline
Treatment of Prader-Willi syndrome
官方记录
synthetic cyclic 8 amino acid analogue of human unacylated ghrelin欧盟2017-10-16
Treatment of Prader-Willi syndrome
官方记录
(R)-3-(1-(2,3-dichloro-4-(pyrazin-2-yl)phenyl)-2,2,2-trifluoroethyl)-1欧盟2020-12-09
Treatment of Prader-Willi syndrome
官方记录
5-bromo-N-(prop-2-yn-1-yl)-2-(1H-1,2,4-triazol-1-yl)pyrimidine-4,6-dia欧盟2023-11-08
Treatment of Prader-Willi syndrome
官方记录
cannabidiol acid methyl ester欧盟2024-07-25
Treatment of Prader-Willi syndrome
官方记录
Etiocholanedione美国1996-05-07
Treatment of Prader-Willi syndrome.
官方记录
Betahistine dihydrochloride美国2007-11-08
Treatment of obesity associated with Prader Willi syndrome
官方记录
diazoxide美国2012-12-03
Treatment of Prader Willi Syndrome
官方记录
carbetocin (nasal spray)美国2014-04-11
Treatment of Prader Willi syndrome
官方记录
oxytocin美国2014-11-24
Treatment of Prader-Willi syndrome
官方记录
setmelanotide美国2015-09-21
Treatment of Prader-Willi Syndrome.
官方记录
D-tagatose美国2017-01-19
Treatment of Prader-Willi Syndrome
官方记录
Oleoylethanolamide美国2017-06-08
Treatment of Prader-Willi syndrome
官方记录
synthetic cyclic 8 amino acid analog of human unacylated ghrelin美国2017-10-12
Treatment of Prader-Willi syndrome (PWS)
官方记录
cannabidiol美国2020-08-21
Treatment of hyperphagia behavior and weight loss in patients with Prader Willi Syndrome
官方记录
Tesofensine plus metoprolol in a fixed-dose combination美国2021-03-02
Treatment of Prader-Willi Syndrome
官方记录
Synthetic analogue of cyclic Glycine-Proline美国2021-09-02
Treatment of Prader-Willi Syndrome
官方记录
Cannabidiol acid methyl ester (CBDA-ME)美国2023-01-03
Treatment of Prader-Willi Syndrome
官方记录
avasimibe美国2023-05-16
Treatment of Prader-Willi syndrome
官方记录
Denatonium acetate monohydrate美国2023-06-08
Treatment of Prader Willi Syndrome
官方记录
5-BROMO-N-(PROP-2-YN-1-YL)-2-(1H-1,2,4-TRIAZOL-1-YL) PYRIMIDINE-4,6-DI美国2024-01-30
treatment of Prader-Willi syndrome
官方记录
pitolisant美国2024-02-12
Treatment of Prader-Willi syndrome (PWS)
官方记录
celastrol美国2024-04-10
treatment of Prader-Willi syndrome
官方记录

数据来自欧洲药品管理局（EMA）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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 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

招募中NCT05791604
The Intervention of Obesity in Children With Prader-Willi Syndrome Using Prebiotics and Probiotics
不适用 · 干预性 · 2023/04/01Children's Hospital of Fudan University
中国研究中心 1 个：Shanghai

其他状态的试验（1 项）

状态未知NCT03554031
A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone Injection in Patients With Prader-Willi Syndrome
III 期 · 干预性 · 2018/04/14Changchun GeneScience Pharmaceutical Co., Ltd.
中国研究中心 6 个：Beijing、Hangzhou、Shanghai、Wuhan

中国境外的在招试验 19L2

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8法国6澳大利亚2比利时2荷兰2阿根廷1加拿大1丹麦1德国1意大利1波兰1罗马尼亚1西班牙1瑞典1另有 1 个国家/地区

CT.gov 报告命中 19 项，此处取回并展示最近的 15 项。

招募中NCT07607730
Regulating Together for Prader-Willi Syndrome: A Group Behavioral Therapy for Emotion Dysregulation
不适用 · 干预性 · 2027/01Children's Mercy Hospital Kansas City
美国
招募中NCT07348601
A Study of CSTI-500 in Patients With Prader-Willi Syndrome
II 期 · 干预性 · 2026/05ConSynance Therapeutics
美国
尚未开始招募NCT07266324
A 2-Part Study to Assess Efficacy, Safety and Tolerability of BMB-101 for the Treatment of Patients With Prader-Willi Syndrome.
II 期 · 干预性 · 2026/01Bright Minds Biosciences Pty Ltd
澳大利亚
尚未开始招募NCT07006207
Brain Olfactory Pathways in Prader-Willi Syndrome
不适用 · 干预性 · 2025/06/23University Hospital, Toulouse
法国
招募中NCT06901245
Tirzepatide in PWS, HO and GNSO
IV 期 · 干预性 · 2025/05/01Grace Kim
美国
招募中NCT06877715
Autistic Symptomatology and Sensory Profile in Children With Prader-Willi Syndrome
观察性 · 2025/04/07University Hospital, Toulouse
法国
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NCT06573723
Institutional Registry of Rare Diseases
观察性 · 2024/07/01Hospital Italiano de Buenos Aires
阿根廷
招募中NCT06366464
A Study of Pitolisant in Patients With Prader-Willi Syndrome
III 期 · 干预性 · 2024/05/28Harmony Biosciences Management, Inc.
澳大利亚、比利时、加拿大、丹麦、法国、德国、意大利、波兰等 13 国
招募中NCT07122505
Oromyofunctional Therapy: a Rehabilitation Program for OSA in Children With Down Syndrome and Prader-Willi Syndrome
不适用 · 干预性 · 2024/04/15University Ghent
比利时
招募中NCT06239116
A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment
I 期、II 期 · 干预性 · 2024/03/05Rhythm Pharmaceuticals, Inc.
美国
招募中NCT06720571
Effects of Transcutaneous Vagus Nerve Stimulation on Emotion Regulation and Executive Functioning in Prader-Willi Syndrome
不适用 · 干预性 · 2023/11/22University of Bordeaux
法国
招募中NCT05939453
Impact of Bright Light Therapy on Prader-Willi Syndrome
不适用 · 干预性 · 2023/10/01Maimonides Medical Center
美国
招募中NCT05938543
Cerebellar TMS and Satiety in Prader-Willi Syndrome
不适用 · 干预性 · 2023/09/01Brigham and Women's Hospital
美国
尚未开始招募NCT04484051
Growth Hormone Study in Adults With Prader-Willi Syndrome
观察性 · 2023/03/24Erasmus Medical Center
荷兰

外部标识与链接

Orphanet OMIM:176270 OMIM:615547 MONDO:0008300 GARD:5575ICD-10 Q87.1ICD-11 LD90.3ClinicalTrials.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）