主动脉弓异常-面部畸形-智力障碍综合征
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
ORPHA:1110疾病
定义 英文原文（暂无中文）
A developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 23
极常见 99–80%14
- 主动脉弓形态异常 HP:0012303
- 宽前额 HP:0000337
- 龋齿 HP:0000670
- 凸鼻嵴 HP:0000444
- 下斜睑裂 HP:0000494
- 嘴角下弯 HP:0002714
- 面部不对称 HP:0000324
- 智力障碍 HP:0001249
- 巨耳畸形 HP:0000400
- 小口畸形 HP:0000160
- 主动脉骑跨 HP:0002623
- 后旋耳 HP:0000358
- 鼻梁突出 HP:0000426
- 三角脸 HP:0000325
常见 79–30%2
- 动静脉畸形 HP:0100026
- 小头畸形 HP:0000252
偶见 29–5%7
- 髋骨形态异常 HP:0003272
- 非典型行为 HP:0000708
- 膝内翻 HP:0002970
- 颧骨发育不良 HP:0010669
- 肌张力减退 HP:0001252
- 胎儿宫内发育迟缓 HP:0001511
- 下颌前突 HP:0000303
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）