软骨发育不全
Achondroplasia
定义 英文原文（暂无中文）
A primary bone dysplasia with micromelia characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.
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
- 1-9 / 100 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| FGFR3 | fibroblast growth factor receptor 3 | Disease-causing germline mutation(s) (gain of function) in |
临床表型 39
极常见 99–80%5
- 腿弯曲 HP:0002979
- 不成比例的身材矮小 HP:0003498
- 脊柱后凸畸形（驼背） HP:0002808
- 肢体发育不良 HP:0009826
- 胸腰部脊柱后凸 HP:0005619
常见 79–30%23
- 面中部形态异常 HP:0000309
- 鼻孔前翻 HP:0000463
- 短指（趾） HP:0001156
- 中枢性睡眠呼吸暂停 HP:0010536
- 颈椎椎管狭窄 HP:0008445
- 鼻梁塌陷 HP:0005280
- 婴儿型肌张力减退 HP:0008947
- 前额突出 HP:0002007
- 中耳机能异常 HP:0011452
- 听力受损 HP:0000365
- 髋关节过度伸展 HP:0045087
- 膝关节过度伸展 HP:0045086
- 伸肘受限 HP:0001377
- 腰椎前凸过度 HP:0002938
- 巨头畸形 HP:0000256
- 阻塞性睡眠呼吸暂停 HP:0002870
- 顶骨隆起 HP:0000242
- 长骨短 HP:0003026
- 中节指骨短 HP:0005819
- 短鼻梁 HP:0003194
- 近节指骨短小 HP:0010241
- 椎管狭窄 HP:0003416
- 三叉手 HP:0004060
偶见 29–5%10
- 髂骨翼形态异常 HP:0011867
- 黑棘皮病 HP:0000956
- 扁平髋臼顶 HP:0003180
- 低氧血症 HP:0012418
- 坐骨大切迹变窄 HP:0003375
- 肥胖 HP:0001513
- 限制性通气功能障碍 HP:0002091
- 肢体近端缩短 HP:0008905
- 胸廓发育不全 HP:0005257
- 前囟增宽 HP:0000260
罕见 <4–1%1
- 脑积水 HP:0000238
近两年的全球研究 765L2
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。
- 2026-08Self-Reported Health Burden and Quality-of-Life-Related Concerns in Patients With Achondroplasia: A Survey From Türkiye
- 2026-08综述病例报告Dosing challenges for chemotherapy and immunotherapy in congenital achondroplasia: a case report and literature review
- 2026-07Real-World Outcomes of Vosoritide Treatment in Chinese Children with Achondroplasia: The Retrospective Cohort COREV Study
- 2026-07Retrospective Study of Foramen Magnum Development in Patients with Achondroplasia Starting Vosoritide Before Age Three
- 2026-07Real-world growth outcomes and safety of vosoritide in children with achondroplasia: a Brazilian single center 24 monhts experience
- 2026-07Natural history of hypochondroplasia: A retrospective, matched-cohort study using the Clinical Practice Research Datalink (CPRD) Aurum database
- 2026-07A new oral treatment for achondroplasia in children
- 2026-07系统综述Pregnancy and related complications in achondroplasia: a scoping review
- 2026-07Response to letter to the editor for "Infigratinib low dose therapy is an effective strategy to treat hypochondroplasia"
- 2026-07Infigratinib is a weak inhibitor of the FGFR3-N540K mutant associated with hypochondroplasia
- 2026-07Evidence-based classification of genes implicated in skeletal disorders using the ClinGen curation framework
- 2026-06Phase 3 Trial of Oral Infigratinib in Children with Achondroplasia
- 2026-06综述The vascular-osteogenic interface in craniofacial development: a structured review of emerging associations in congenital malformations
- 2026-06Second drug approved for achondroplasia
- 2026-06综述Genetic Bone Diseases: A Scoping Review of Pathology, Symptoms, Diagnosis, Treatment, and New Horizons
- 2026-06开放获取Patient perspectives on humeral lengthening in achondroplasia: association between treatment timing and acceptance
- 2026-06开放获取Development and pilot testing of the quality of life of parents of children with achondroplasia questionnaire
- 2026-06Assessing signs and impacts of achondroplasia: psychometric evaluation of the Achondroplasia Child Experience Measures
- 2026-06开放获取Growth plate cartilage-targeting nanoparticles for pharmacological treatment of hypochondroplasia
- 2026-06综述开放获取Achondroplasia management in the era of targeted therapies: a meta-analysis of C-type natriuretic peptide analogs
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。
- Voxzogo欧盟2021-08-26vosoritide官方记录
- Voxzogo美国2021-11-19vosoritide官方记录
- Yuviwel美国2026-02-27navepegritide官方记录
已获孤儿药资格、尚未获批的在研药物（7 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。
- C-type natriuretic peptide conjugated to multi-arm polyethylene glycol欧盟2020-07-27Treatment of achondroplasia官方记录
- Humanised monoclonal antibody derivative against fibroblast growth fac欧盟2021-06-21Treatment of achondroplasia官方记录
- Infigratinib欧盟2021-07-19Treatment of achondroplasia官方记录
- Infigratinib美国2021-08-12Treatment of achondroplasia官方记录
- Anti-fibroblast growth factor receptor 3 antigen-binding fragment (ant美国2022-01-25Treatment of Achondroplasia官方记录
- Small molecule fibroblast growth factor receptor 3 selective tyrosine 美国2023-07-25Treatment of Achondroplasia官方记录
- selective small molecular inhibitor of fibroblast growth factor recept美国2026-03-16treatment of achondroplasia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 7L2
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 2
- 招募中NCT07301463A Study in Children With Achondroplasia中国研究中心 8 个：Beijing、Chengdu、Guangzhou、Hangzhou、Shanghai、Wuhan 等 7 地
- 尚未开始招募NCT07297875A Study of ABSK061 to Assess Safety, Tolerability, Pharmacokinetics, and Efficacy in Children With Achondroplasia中国研究中心 7 个：Beijing、Chengde、Chengdu、Hangzhou、Shanghai、Wuhan 等 7 地
其他状态的试验（5 项）
- 已终止NCT03794609Observational Study Investigating Clinical & Anthropometric Characteristics of Children With Achondroplasia.中国研究中心 2 个：Beijing、Guangzhou
- 已完成NCT03875534A Multi-center, Longitudinal, Observational Study of Children With Achondroplasia中国研究中心 6 个：Beijing、Guangzhou、Hangzhou、Shanghai、Shenzhen、Wuhan
- 已完成NCT05246033A Dose Escalation Trial Evaluating Safety, Efficacy, and Pharmacokinetics of Multiple Subcutaneous Doses of TransCon CNP Administered Once Weekly in Children With Achondroplasia中国研究中心 5 个：Beijing、Guangzhou、Hangzhou、Shanghai、Wuhan
- 已完成NCT05353192A Study to Evaluate the Efficacy and Safety of Recombinant Human Growth Hormone in Children With Achondroplasia中国研究中心 1 个：Shanghai
- 已终止NCT06067425Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of SAR442501 in Pediatric Participants With Achondroplasia中国研究中心 2 个：Shanghai、Wuhan
中国境外的在招试验 12L2
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6加拿大5英国5澳大利亚4法国4意大利3日本2挪威2西班牙2瑞典2丹麦2爱尔兰2波兰1罗马尼亚1另有 8 个国家/地区
CT.gov 报告命中 12 项，此处取回并展示最近的 10 项。
- 招募中NCT07441876Study to Evaluate the Efficacy and Safety of BMN 333 Versus Vosoritide in Children With Achondroplasia澳大利亚、加拿大、意大利、日本、波兰、罗马尼亚、韩国、英国 等 9 国
- 招募中NCT07388966Prospective Longitudinal Monocentric Study to Measure Limb Movement in Patients With FGFR3-related Skeletal Dysplasia法国
- 招募中NCT07169279Interventional Study of Infigratinib in Children < 3 Years Old With Achondroplasia (ACH)澳大利亚、加拿大、挪威、新加坡、西班牙、英国、美国
- 招募中NCT06842355A Study of TYRA-300 in Children With Achondroplasia: BEACH301澳大利亚、加拿大、法国、荷兰、西班牙、瑞典、英国、美国
- 招募中NCT06732895A Clinical Trial to Evaluate Efficacy and Safety of Navepegritide in Adolescents (12 - 18 Years of Age) With Achondroplasia.加拿大、丹麦、法国、爱尔兰、英国
- 招募中NCT06926491Evaluate the Efficacy and Safety of KK8398 in Patients With Achondroplasia（AOBA Study）日本
- 招募中NCT06079398A Clinical Trial to Evaluate Efficacy and Safety of TransCon CNP Compared With Placebo in Infants (0 to <2 Years of Age) With Achondroplasia澳大利亚、奥地利、加拿大、丹麦、芬兰、法国、德国、爱尔兰 等 15 国
- 招募中NCT06168201VIrtual STudy in Achondroplasia for the US (VISTA)美国
- 招募中NCT05328050Registry for Patients With Achondroplasia / Hypochondroplasia (OMPR-Ach/Hy)意大利
- 招募中NCT02597881Achondroplasia Natural History Multicenter Clinical Study美国
外部标识与链接
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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）