甲苯胚胎病
Toluene embryopathy
定义 英文原文(暂无中文)
A neurodevelopmental teratologic syndrome due to prenatal exposure to toluene. The disease is characterized by prematurity, low birth weight, dysmorphic features (short palpebral fissures, deep set eyes, low set ears, mid-facial hypoplasia, flat nasal bridge, thin upper lip, micrognathia, spatulate fingertips and small fingernails), central nervous system dysfunctions (intellectual disability, microcephaly, language impairment, hyperactivity, visual dysfunction) and postnatal growth delay. Prenatal exposure to toluene occurs as a result of incidental occupational exposure or solvent abuse during pregnancy. The features of toluene embryopathy often overlap with those seen in fetal alcohol syndrome.
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 22
极常见 99–80%11
- 异常言语模式 HP:0002167
- 双侧顶骨部收窄 HP:0004422
- 全面发育迟缓 HP:0001263
- 反射亢进 HP:0001347
- 肌张力减退 HP:0001252
- 低位耳 HP:0000369
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 招风耳 HP:0000411
- 身材矮小 HP:0004322
- 锥形指 HP:0001182
常见 79–30%9
- 皮纹异常 HP:0007477
- 肾脏位置异常 HP:0100542
- 隐睾 HP:0000028
- 内眦赘皮 HP:0000286
- 肾积水 HP:0000126
- 颧骨发育不良 HP:0010669
- 短鼻 HP:0003196
- 短睑裂 HP:0012745
- 人中扁平 HP:0000319
偶见 29–5%2
- 斜视 HP:0000486
- 下红唇薄 HP:0000233
外部标识与链接
发现这一页有错误?告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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)