先天性多发关节弯曲-吹口哨面容综合征
Arthrogryposis multiplex congenita-whistling face syndrome
定义 英文原文（暂无中文）
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
别名
Illum综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 24
极常见 99–80%14
- 肩部形态异常 HP:0003043
- 拇指内收 HP:0001181
- 眼睑裂狭小 HP:0000581
- 脸颊丰满 HP:0000293
- 肌张力减退 HP:0001252
- 关节僵硬 HP:0001387
- 小口畸形 HP:0000160
- 羊水过多 HP:0001561
- 后旋耳 HP:0000358
- 癫痫发作 HP:0001250
- 严重的全面性发育迟缓 HP:0011344
- 身材矮小 HP:0004322
- 下红唇薄 HP:0000233
- 吹口哨面容 HP:0000346
常见 79–30%4
- 脑电图异常 HP:0002353
- 胎儿宫内发育迟缓 HP:0001511
- 小下颌 HP:0000347
- 皮埃尔 - 罗宾序列征 HP:0000201
偶见 29–5%6
- 指甲形态异常 HP:0001231
- 腭形态异常 HP:0000174
- 鼻异常 HP:0000366
- 下巴浅凹 HP:0010751
- 嘴角下弯 HP:0002714
- 听力异常 HP:0000364
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）