反应停胎儿病
Thalidomide embryopathy
定义 英文原文（暂无中文）
Thalidomide embryopathy is a group of anomalies present in infants as a result of in utero exposure (between 20-36 days after fertilization) to thalidomide, a sedative used in treatment of a range of conditions, including morning sickness, leprosy and multiple myeloma. Thalidomine embryopathy is characterized by phocomelia, amelia, forelimb and hand plate anomalies (absence of humerus and/or forearm, femur and/or lower leg, thumb anomalies). Other anomalies include facial hemangiomas, and damages to ears (anotia, microtia), eyes (microphthalmia, anophthalmos, coloboma, strabismus), internal organs (kidney, heart, and gastrointestinal tract), genitalia, and heart. Infant mortality associated with thalidomide embryopathy is estimated to be as high as 40%. Thalidomide is contraindicated in pregnancy and pregnancy prevention is recommended in women under treatment.
别名
胎儿反应停综合征
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 产前、新生儿期
- 患病率
- 1-9 / 1 000 000
临床表型 17
常见 79–30%12
- 心血管系统形态异常 HP:0030680
- 腓骨形态异常 HP:0002991
- 拇指发育不全或发育不良 HP:0009601
- 尺骨发育不良/发育不全 HP:0006495
- 股骨发育不良/发育不全 HP:0005613
- 肱骨发育不良/发育不全 HP:0006507
- 轴前多指 HP:0001177
- 桡偏畸形手 HP:0004059
- 身材矮小 HP:0004322
- 手劈裂 HP:0001171
- 三指节拇指 HP:0001199
- 上肢短肢畸形 HP:0009813
偶见 29–5%5
- 外耳异常 HP:0000356
- 无耳畸形 HP:0009892
- 慢性鼻炎 HP:0002257
- 听力受损 HP:0000365
- 胰岛素抵抗 HP:0000855
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）