腓骨-尺骨发育不良肾功能异常综合征
Fibulo-ulnar hypoplasia-renal anomalies syndrome
ORPHA:2256疾病
定义 英文原文（暂无中文）
Fibulo-ulnar hypoplasia-renal anomalies syndrome is characterized by fibuloulnar dysostosis with renal anomalies. It has been described in two sibs born to nonconsanguinous parents. The syndrome is lethal at birth (respiratory failure). Clinical manifestations include ear and facial anomalies (including micrognathia), symmetrical shortness of long bones, fibular agenesis and hypoplastic ulna, oligosyndactyly, congenital heart defects, and cystic or hypoplastic kidney. It is transmitted as an autosomal recessive trait.
别名
Saito-Kuba-Tsuruta综合征
基本事实
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 22
极常见 99–80%14
- 近节指骨发育不全 HP:0010242
- 腓骨发育不良/发育不全 HP:0006492
- 鼻梁塌陷 HP:0005280
- 下斜睑裂 HP:0000494
- 手指并指 HP:0006101
- 前额突出 HP:0002007
- 眼距过宽 HP:0000316
- 尺骨发育不良 HP:0003022
- 小下颌 HP:0000347
- 羊水过多 HP:0001561
- 早产 HP:0001622
- 招风耳 HP:0000411
- 长骨短 HP:0003026
- 宽鼻梁 HP:0000431
偶见 29–5%8
- 心血管系统形态异常 HP:0030680
- 肠系膜形态异常 HP:0100016
- 隐睾 HP:0000028
- 阴茎发育不良 HP:0008736
- 肾发育不全 HP:0000089
- 披肩状阴囊 HP:0000049
- 单脐动脉 HP:0001195
- 室间隔缺损 HP:0001629
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）