尺骨发育不全-裂足综合征
Ulnar hypoplasia-split foot syndrome
ORPHA:1122疾病
定义 英文原文(暂无中文)
A rare dysostosis with combined reduction of upper and lower limbs characterized by severe ulnar hypoplasia, absence of fingers two to five, and split-foot. Mostly both hands and feet are affected. Patients may also present with curved and broad radius with cortical thickening. There have been no further descriptions in the literature since 1978.
别名
尺骨发育不良-龙虾爪畸形足综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 4
极常见 99–80%3
- 桡骨发育不良/发育不全 HP:0006501
- 尺骨发育不良 HP:0003022
- 手劈裂 HP:0001171
常见 79–30%1
- 脚劈裂 HP:0001839
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)