母源性过高热引起出生缺陷
Maternal hyperthermia-induced birth defects
ORPHA:2216疾病
定义 英文原文（暂无中文）
A rare maternal disease-related embryofetopathy characterized by variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, ecephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (e.g., bifid uvula, preauricular pit or tag). Consensus regarding cause-effect relationship has not been reached.
基本事实
- 发病年龄
- 产前、新生儿期
临床表型 16
极常见 99–80%5
- 认知功能损害 HP:0100543
- 脑电图异常 HP:0002353
- 肌张力减退 HP:0001252
- 癫痫发作 HP:0001250
- 身材矮小 HP:0004322
常见 79–30%10
- 神经细胞迁移异常 HP:0002269
- 眼睛发育缺陷/不全 HP:0008056
- 双侧单掌横折痕 HP:0007598
- 腭裂 HP:0000175
- 第五指屈指畸形 HP:0004209
- 阴茎发育不良 HP:0008736
- 胎儿宫内发育迟缓 HP:0001511
- 关节僵硬 HP:0001387
- 小头畸形 HP:0000252
- 面中部后缩 HP:0011800
偶见 29–5%1
- 肌张力增高 HP:0001276
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）