白色额发伴畸形
White forelock with malformations
ORPHA:2475疾病
定义 英文原文（暂无中文）
White forelock with malformations is a multiple congenital anomalies syndrome characterized by poliosis, distinct facial features (epicanthal folds, hypertelorism, posterior rotation of ears, prominent philtrum, high-arched palate) and congenital anomalies/malformations of the eye (blue sclera), cardiopulmonary (atrial septal defect, prominent thoracic and abdominal veins), and skeletal (clinodactyly, syndactyly of the fingers and 2nd and 3rd toes) systems. There have been no further descriptions in the literature since 1980.
基本事实
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 19
极常见 99–80%14
- 腭形态异常 HP:0000174
- 呼吸系统异常 HP:0002086
- 房间隔缺损 HP:0001631
- 蓝巩膜 HP:0000592
- 第五指屈指畸形 HP:0004209
- 深人中沟 HP:0002002
- 骨成熟延迟 HP:0002750
- 长头畸形 HP:0000268
- 内眦赘皮 HP:0000286
- 手指并指 HP:0006101
- 眼距过宽 HP:0000316
- 关节过度活动 HP:0001382
- 后旋耳 HP:0000358
- 额发变白 HP:0002211
常见 79–30%5
- 肋骨形态异常 HP:0000772
- 近视 HP:0000545
- 隐性脊柱裂 HP:0003298
- 先天性肩胛骨向上移位（Sprengel畸形） HP:0000912
- 斜视 HP:0000486
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）