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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

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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)