软腭-面-骨骼综合征
Velo-facial-skeletal syndrome
ORPHA:3424疾病
定义 英文原文（暂无中文）
A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 18
极常见 99–80%7
- 第五指屈指畸形 HP:0004209
- 内眦赘皮 HP:0000286
- 腭高而窄 HP:0002705
- 长脸 HP:0000276
- 短掌 HP:0004279
- 身材矮小 HP:0004322
- 宽鼻梁 HP:0000431
常见 79–30%11
- 拇指形态异常 HP:0001172
- 牙列异常 HP:0000164
- 骨成熟延迟 HP:0002750
- 面部不对称 HP:0000324
- 眼距过宽 HP:0000316
- 巨手 HP:0001176
- 脸狭窄 HP:0000275
- 早产 HP:0001622
- 指尖垫突出 HP:0001212
- 内眦距过宽 HP:0000506
- 颈部皮肤皱襞增厚 HP:0000474
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）