肢端颅面骨发育不良
Acrocraniofacial dysostosis
ORPHA:949疾病
定义 英文原文（暂无中文）
A very rare acrofacial dysostosis characterized by short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988.
别名
Kaplan-Plauchu-Fitch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 44
极常见 99–80%24
- 指甲形态异常 HP:0001231
- 椎体形态异常 HP:0003312
- 耳廓形态异常 HP:0000377
- 趾甲形态异常 HP:0008388
- 鼻孔前翻 HP:0000463
- 拇指变宽 HP:0011304
- 腭裂 HP:0000175
- 下斜睑裂 HP:0000494
- 喇叭状髂骨翼 HP:0002869
- 小下颌 HP:0000347
- 拇趾末节指骨部分重复 HP:0010097
- 后旋耳 HP:0000358
- 耳前凹陷 HP:0004467
- 鼻梁突出 HP:0000426
- 眼球突出 HP:0000520
- 上睑下垂 HP:0000508
- 第一掌骨短 HP:0010034
- 末节指骨短 HP:0009882
- 人中短 HP:0000322
- 身材矮小 HP:0004322
- 锥形指 HP:0001182
- 内眦距过宽 HP:0000506
- 三指节拇指 HP:0001199
- 尖头畸形 HP:0000262
常见 79–30%20
- 心血管系统形态异常 HP:0030680
- 髋骨形态异常 HP:0003272
- 砧骨形态异常 HP:0011453
- 锤骨形态异常 HP:0011454
- 中耳听小骨异常 HP:0004452
- 牙齿过早萌出 HP:0006288
- 鼻后孔闭锁 HP:0000453
- 传导性听力受损 HP:0000405
- 髋外翻 HP:0002673
- 颅缝早闭 HP:0001363
- 膝外翻 HP:0002857
- 眼距过宽 HP:0000316
- 泪液分泌异常 HP:0000632
- 小头畸形 HP:0000252
- 近视 HP:0000545
- 漏斗胸 HP:0000767
- 感音神经性听力受损 HP:0000407
- 额头倾斜 HP:0000340
- 隐性脊柱裂 HP:0003298
- 手指尺侧偏斜 HP:0009465
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）