扁平面-小口畸形-耳部异常综合征
Flat face-microstomia-ear anomaly syndrome
ORPHA:1968疾病
定义 英文原文（暂无中文）
Flat face-microstomia-ear anomaly syndrome is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by dysmorphic facial features, including high forehead, elongated and flattened midface, arched and sparse eyebrows, short palpebral fissures, telecanthus, long nose with hypoplastic nostrils, long philtrum, high and narrow palate and microstomia with downturned corners. Ears are characteristically malformed, large, low-set and posteriorly rotated and nasal speech is associated. There have been no further descriptions in the literature since 1994.
别名
睑裂狭小-内眦距过宽-小口畸形综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 32
极常见 99–80%25
- 耳屏形态异常 HP:0009912
- 对耳轮形态异常 HP:0009738
- 对耳屏形态异常 HP:0009896
- 耳垂发育缺陷/不全 HP:0009906
- 眼睑裂狭小 HP:0000581
- 宽前额 HP:0000337
- 下巴浅凹 HP:0010751
- 嘴角下弯 HP:0002714
- 扁平脸 HP:0012368
- 额头高 HP:0000348
- 腭高而窄 HP:0002705
- 高拱形眉毛 HP:0002553
- 鼻音过重的言语 HP:0001611
- 颧骨发育不良 HP:0010669
- 长脸 HP:0000276
- 长鼻 HP:0003189
- 长人中 HP:0000343
- 巨耳畸形 HP:0000400
- 颧骨扁平 HP:0000272
- 小下颌 HP:0000347
- 小口畸形 HP:0000160
- 疏眉 HP:0045075
- 内眦距过宽 HP:0000506
- 鼻翼发育不全 HP:0000430
- 宽鼻梁 HP:0000431
常见 79–30%5
- 隐睾 HP:0000028
- 腹股沟疝 HP:0000023
- 后旋耳 HP:0000358
- 脊柱侧弯 HP:0002650
- 小阴囊 HP:0000046
偶见 29–5%2
- 口腔黏膜形态异常 HP:0011830
- 手指弯曲 HP:0100490
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）