肢端面部骨发育不全，Weyers型
Acrofacial dysostosis, Weyers type
ORPHA:952疾病
定义 英文原文（暂无中文）
A rare ectodermal dysplasia syndrome with bone abnormalities characterized by onychodystrophy; anomalies of the lower jaw, oral vestibule and dentition; post-axialpolydactyly; moderately restricted growth with short limbs; and normal intelligence. Although it closely resembles Ellis-van Creveld syndrome, an allelic disorder and another type of ciliopathy, WAD is usually a milder disease without the presence of heart abnormalities and is inherited in an autosomal dominant manner.
别名
肢端面部骨发育不全，Weyers型
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| CTNNB1 | catenin beta 1 | Disease-causing germline mutation(s) (gain of function) in |
| EVC | EvC ciliary complex subunit 1 | Disease-causing germline mutation(s) in |
| EVC2 | EvC ciliary complex subunit 2 | Disease-causing germline mutation(s) in |
临床表型 19
极常见 99–80%14
- 指甲形态异常 HP:0001231
- 口腔系带形态异常 HP:0000190
- 趾甲形态异常 HP:0008388
- 牙列异常 HP:0000164
- 牙齿过早萌出 HP:0006288
- 锥状齿 HP:0000698
- 缺牙症 HP:0000668
- 趾甲发育不良 HP:0001800
- 轻度身材矮小 HP:0003502
- 甲营养不良 HP:0008404
- 轴后多指畸形 HP:0001162
- 单个上门齿 HP:0006315
- 微甲 HP:0001792
- 趾甲发育不良 HP:0100797
常见 79–30%5
- 对耳轮形态异常 HP:0009738
- 第五指屈指畸形 HP:0004209
- Tessier裂 HP:0002006
- 指交叠 HP:0010557
- 小手 HP:0200055
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）