骨硬化性骨骺端发育不良
Osteosclerotic metaphyseal dysplasia
ORPHA:500548疾病
定义 英文原文（暂无中文）
A rare primary bone dysplasia characterized by osteosclerosis localized predominantly to the metaphyses and epiphyseal margins of the appendicular bones and metaphyseal equivalents of the axial bones, as well as the vertebral endplates, costal ends, and margins of the flat bones. The skull is usually unaffected. The condition is associated with developmental delay and hypotonia. Seizures and spastic paraplegia have also been reported. Serum alkaline phosphatase and urinary pyridinoline and deoxypyridinoline levels may be elevated.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| LRRK1 | leucine rich repeat kinase 1 | Disease-causing germline mutation(s) in |
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）