胫侧半肢畸形-多并指（趾）-拇指三节指骨综合征
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
ORPHA:988疾病
定义 英文原文（暂无中文）
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome is a rare, genetic dysostosis syndrome, with marked inter- and intra-familial variation, typically characterized by triphalangeal thumbs, hand and/or foot polysyndactyly and/or absent/hypoplastic tibiae (associated with duplication of fibulae in some cases), although isolated triphalangeal thumbs have also been reported. It is often accompanied with remarkable short stature and additional features may include radio-ulnar synostosis and hand oligodactyly, as well as abnormal carpal and metatarsal bones.
别名
胫骨缺如-多指畸形综合征
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 2
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SHH | sonic hedgehog signaling molecule | Disease-causing germline mutation(s) in |
| LMBR1 | limb development membrane protein 1 | Disease-causing germline mutation(s) in |
临床表型 6
极常见 99–80%4
- 腓骨形态异常 HP:0002991
- 胫骨发育不全或发育低下 HP:0005772
- 髌骨发育不全 HP:0006443
- 身材矮小 HP:0004322
常见 79–30%2
- 拇指发育不全或发育不良 HP:0009601
- 腕骨骨性融合 HP:0005048
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）