苯巴比妥胚胎病
Phenobarbital embryopathy
ORPHA:1919疾病
定义 英文原文(暂无中文)
A teratologic disorder associated with intrauterine exposure of phenobarbital during the first trimester of pregnancy. Infants are usually asymptomatic but an increased risk of intellectual disability, tetralogy of Fallot, unilateral cleft lip, hypoplasia of the mitral valve and some other mild abnormalities such as hypertelorism, epicanthus, hypoplasia and low insertion of the nose, low insertion of the ears, prognathism, finger hypoplasia, brachydactyly and hypospadias have been reported in rare cases.
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 16
常见 79–30%10
- 鼻基形态异常 HP:0012808
- 甲发育缺陷/不全 HP:0008386
- 短指(趾) HP:0001156
- 内眦赘皮 HP:0000286
- 全面发育迟缓 HP:0001263
- 眼距过宽 HP:0000316
- 智力障碍 HP:0001249
- 低位耳 HP:0000369
- 下颌前突 HP:0000303
- 单侧唇裂 HP:0100333
偶见 29–5%6
- 二尖瓣形态异常 HP:0001633
- 手指发育不良/发育不全 HP:0006265
- 尿道下裂 HP:0000047
- 颧骨扁平 HP:0000272
- 小头畸形 HP:0000252
- 法洛四联症 HP:0001636
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)