胎儿三甲双酮综合征
Fetal trimethadione syndrome
ORPHA:1913疾病
定义 英文原文（暂无中文）
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to trimethadione and that is characterized by pre- and post-natal growth retardation, intellectual deficit, developmental and speech delay, craniofacial anomalies (with some similarities to those seen in fetal valproate syndrome), and less commonly, cleft palate, malformations of the heart, urogenital system and limbs. Trimethadione is an antiepileptic drug that has been removed from the market in Europe and is no longer used much in other countries due to teratogenicity and potential side effects.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 产前、新生儿期
临床表型 26
极常见 99–80%14
- 耳轮形态异常 HP:0011039
- 短头畸形 HP:0000248
- 鼻梁塌陷 HP:0005280
- 内眦赘皮 HP:0000286
- 全面发育迟缓 HP:0001263
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 低位耳 HP:0000369
- 小下颌 HP:0000347
- 面中部后缩 HP:0011800
- 耳轮过度卷曲 HP:0000396
- 前额中央突出 HP:0011220
- 短鼻 HP:0003196
- 连眉 HP:0000664
常见 79–30%10
- 外阴性别不明 HP:0000062
- 房间隔缺损 HP:0001631
- 双侧单掌横折痕 HP:0007598
- 高腭 HP:0000218
- 尿道下裂 HP:0000047
- 小头畸形 HP:0000252
- 上睑下垂 HP:0000508
- 斜视 HP:0000486
- 法洛四联症 HP:0001636
- 室间隔缺损 HP:0001629
偶见 29–5%2
- 脊柱侧弯 HP:0002650
- 大动脉转位 HP:0001669
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）