干骺端发育不良
Metaphyseal anadysplasia
ORPHA:1040疾病
定义 英文原文（暂无中文）
A rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.
别名
Maroteaux-Verloes-Stanescu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
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 3
| 基因 | 名称 | 关联类型 |
|---|---|---|
| MMP13 | matrix metallopeptidase 13 | Disease-causing germline mutation(s) (loss of function) in |
| MMP13 | matrix metallopeptidase 13 | Disease-causing germline mutation(s) (gain of function) in |
| MMP9 | matrix metallopeptidase 9 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 9
极常见 99–80%9
- 干骺端形态异常 HP:0000944
- 尺骨形态异常 HP:0040071
- 骨骺形态异常 HP:0005930
- 下肢异常 HP:0002814
- 尺骨干骺端形态异常 HP:0004039
- 桡骨发育不良/发育不全 HP:0006501
- 长骨弯曲 HP:0006487
- 关节僵硬 HP:0001387
- 身材矮小 HP:0004322
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）