Laurin-Sandrow综合征
Laurin-Sandrow syndrome
ORPHA:2378疾病
定义 英文原文（暂无中文）
Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella), often associated with ulnar and/or fibular duplication (and sometimes tibial agenesis). It has been described in less than 20 cases. Some cases with the same clinical signs but without nasal defects have also been reported, and may represent the same entity. The etiology of LSS is unknown. Different modes of inheritance have been suggested.
别名
一腕双手-脚鼻缺陷综合征
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| LMBR1 | limb development membrane protein 1 | Disease-causing germline mutation(s) in |
临床表型 28
极常见 99–80%9
- 掌骨形态异常 HP:0005916
- 拇指发育不全或发育不良 HP:0009601
- 手指并指 HP:0006101
- 镜像多指（趾） HP:0010689
- 轴前多趾 HP:0001841
- 轴前多指 HP:0001177
- 跗骨骨性融合 HP:0008368
- 并趾 HP:0001770
- 三指节拇指 HP:0001199
常见 79–30%12
- 鼻异常 HP:0000366
- 手腕异常 HP:0003019
- 桡骨缺如 HP:0003974
- 胫骨缺如 HP:0009556
- 鼻嵴凹陷 HP:0000457
- 腓骨重复 HP:0010503
- 肢体重复 HP:0100524
- 关节活动受限 HP:0001376
- 鼻前突 HP:0000448
- 鼻小柱短小 HP:0002000
- 畸形足 HP:0001883
- 鼻翼发育不全 HP:0000430
偶见 29–5%7
- 胼胝体发育缺陷/发育不全 HP:0007370
- 隐睾 HP:0000028
- 嘴角下弯 HP:0002714
- 脑积水 HP:0000238
- 眼距过宽 HP:0000316
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
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）