神经面指肾综合征
Neurofaciodigitorenal syndrome
ORPHA:2673疾病
定义 英文原文（暂无中文）
Neurofaciodigitorenal syndrome is a rare multiple developmental anomalies syndrome characterized by neurological abnormalities (including megalencephaly, hypotonia, intellectual disability, abnormal EEG), dysmorphic facial features (high prominent forehead, grooved nasal tip, ptosis, ear anomalies) and acrorenal defects (such as triphalangism, broad halluces, unilateral renal agenesis). Additionally, intrauterine growth restriction, short stature and congenital heart defects may be associated. There have been no further descriptions in the literature since 1997.
别名
Freire-Maia-Pinheiro-Opitz综合征
基本事实
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 30
极常见 99–80%16
- 掌骨形态异常 HP:0005916
- 口腔黏膜形态异常 HP:0011830
- 耳廓形态异常 HP:0000377
- 耳屏形态异常 HP:0009912
- 对耳屏形态异常 HP:0009896
- 外耳道闭锁 HP:0000413
- 短头畸形 HP:0000248
- 前颌骨发育不良 HP:0010650
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 低位耳 HP:0000369
- 前额中央突出 HP:0011220
- 鼻梁突出 HP:0000426
- 身材矮小 HP:0004322
- 三指节拇指 HP:0001199
常见 79–30%14
- 心血管系统形态异常 HP:0030680
- 末节指骨形态异常 HP:0009832
- 肘部异常 HP:0009811
- 人中异常 HP:0000288
- 角膜营养不良 HP:0001131
- 隐睾 HP:0000028
- 下斜睑裂 HP:0000494
- 内眦赘皮 HP:0000286
- 眼距过宽 HP:0000316
- 下颌前突 HP:0000303
- 漏斗胸 HP:0000767
- 斜头畸形 HP:0001357
- 上睑下垂 HP:0000508
- 单侧肾缺如 HP:0000122
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）