孤立型手足裂畸形
Isolated split hand-split foot malformation
ORPHA:2440疾病
定义 英文原文（暂无中文）
A rare, congenital, bone development disorder characterized by a spectrum of terminal limb malformations including hypoplasia/absence of central rays of the hands and feet (that can occur in one to all four digits), variable degrees of median clefts of the hands and/or feet, aplasia and syndactyly, with a wide range of severity ranging from malformed central finger/toe to a lobster claw-like appearance of the hands and feet. It can occur as an isolated malformation or it can be a feature in various syndromes.
别名
分裂手足畸形
基本事实
- 遗传方式
- 常染色体显性、常染色体隐性、X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- 1-9 / 100 000（Europe）
相关基因 8
| 基因 | 名称 | 关联类型 |
|---|---|---|
| TP63 | tumor protein p63 | Disease-causing germline mutation(s) in |
| SEM1 | SEM1 26S proteasome subunit | Candidate gene tested in |
| WNT10B | Wnt family member 10B | Disease-causing germline mutation(s) in |
| DLX5 | distal-less homeobox 5 | Disease-causing germline mutation(s) in |
| BTRC | beta-transducin repeat containing E3 ubiquitin protein ligase | Candidate gene tested in |
| DLX6 | distal-less homeobox 6 | Disease-causing germline mutation(s) in |
| EPS15L1 | epidermal growth factor receptor pathway substrate 15 like 1 | Disease-causing germline mutation(s) (loss of function) in |
| FBXW4 | F-box and WD repeat domain containing 4 | Role in the phenotype of |
临床表型 8
极常见 99–80%1
- 少指（趾）畸形 HP:0012165
常见 79–30%3
- 手指并指 HP:0006101
- 独指手 HP:0004058
- 脚劈裂 HP:0001839
偶见 29–5%4
- 手缺如 HP:0004050
- 无虹膜 HP:0000526
- 感音神经性听力受损 HP:0000407
- 手劈裂 HP:0001171
外部标识与链接
OrphanetOMIM:183600OMIM:225300OMIM:246560MONDO:0016576GARD:6319ICD-10 Q74.8ICD-11 LB9BClinicalTrials.gov 检索
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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）