胎儿乙内酰脲综合征
Fetal hydantoin syndrome
定义 英文原文（暂无中文）
A drug-related embryofetopathy that can occur when an embryo/fetus is exposed to the anticonvulsant drug phenytoin, characterized by distinct craniofacial anomalies (hypertelorism and epicanthal folds, short nose and deep nasal bridge, malformed and low set ears, short neck) as well as hypoplastic distal phalanges and underdevelopment of nails of fingers and toes, prenatal and postnatal growth retardation, and neurological impairment (at a 2-3 times higher risk than that of the general population) including cognitive deficits and motor developmental delay. Less commonly, microcephaly, ocular defects, oral clefts, umbilical and inguinal hernias, hypospadias and cardiac anomalies have also been reported.
别名
胎儿双乙内酰脲综合征
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 30
极常见 99–80%6
- 皮纹异常 HP:0007477
- 耳廓形态异常 HP:0000377
- 鼻嵴凹陷 HP:0000457
- 听力异常 HP:0000364
- 后旋耳 HP:0000358
- 短鼻 HP:0003196
常见 79–30%20
- 颅缝或囟门形态异常 HP:0000235
- 阴囊对裂 HP:0000048
- 毛发粗糙 HP:0002208
- 内眦赘皮 HP:0000286
- 下唇唇红外翻 HP:0000232
- 全面发育迟缓 HP:0001263
- 疝 HP:0100790
- 眼距过宽 HP:0000316
- 指甲发育不良 HP:0001804
- 胎儿宫内发育迟缓 HP:0001511
- 后发际低 HP:0002162
- 小头畸形 HP:0000252
- 上睑下垂 HP:0000508
- 末节指骨短 HP:0009882
- 身材矮小 HP:0004322
- 斜视 HP:0000486
- 颈部皮肤皱襞增厚 HP:0000474
- 三指节拇指 HP:0001199
- 乳头间距宽 HP:0006610
- 宽嘴 HP:0000154
偶见 29–5%4
- 心血管系统的任何异常。 HP:0001626
- 腭裂 HP:0000175
- 隐睾 HP:0000028
- 肿瘤 HP:0002664
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）