桡骨-肾综合征
Radio-renal syndrome
ORPHA:3015疾病
定义 英文原文(暂无中文)
Radio-renal syndrome is a rare developmental defect during embryogenesis characterized by variable upper limb reduction defects and renal anomalies. Patients typically present absence/hypoplasia of digits, radii and/or ulnae, short stature and mild external ear malformation, as well as kidney agenesis or ectopia. There have been no further descriptions in the literature since 1983.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 24
极常见 99–80%24
- 椎体形态异常 HP:0003312
- 肋骨形态异常 HP:0000772
- 肘部异常 HP:0009811
- 短指(趾) HP:0001156
- 乳糜胸 HP:0010310
- 凸鼻嵴 HP:0000444
- 鼻梁塌陷 HP:0005280
- 嘴角下弯 HP:0002714
- 呼吸困难 HP:0002094
- 腭高而窄 HP:0002705
- 桡骨发育不全 HP:0002984
- 小下颌 HP:0000347
- 短肢 HP:0002983
- 多囊性肾发育不良 HP:0000003
- 胸腔积液 HP:0002202
- 肾缺如 HP:0000104
- 肾发育不良 HP:0000110
- 肾发育不良/不全 HP:0008678
- 呼吸窘迫 HP:0002098
- 呼吸衰竭 HP:0002878
- 下颌后缩 HP:0000278
- 严重的身材矮小 HP:0003510
- 短颈 HP:0000470
- 短掌 HP:0004279
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)