Pyle病
Pyle disease
ORPHA:3005疾病
定义 英文原文（暂无中文）
A rare bone dysplasia characterized by long bones with wide and expanded metaphyses, thin cortical bone and bone fragility. The metaphyseal widening and undermodeling extends well into the diaphysis and causes in the distal femur the typical ''Erlenmeyer flask'' or ''paddle'' appearance. Bone undermodeling is also seen in the tubular bones of the hands where there is lack of diaphyseal constriction. Common clinical features include genua valga, big clavicles and dental anomalies. Mild hyperostosis of the skull and mild platyspondyly can also be observed on radiographs.
别名
干骺端发育不良，Pyle型
基本事实
- 遗传方式
- 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 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SFRP4 | secreted frizzled related protein 4 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 18
极常见 99–80%2
- 股骨锥形瓶状变形 HP:0004975
- 膝外翻 HP:0002857
常见 79–30%8
- 龋齿 HP:0000670
- 颅面骨硬化 HP:0005464
- 牙齿错位咬合 HP:0000689
- 干骺端膨大 HP:0003051
- 骨折易感性增加 HP:0002659
- 下颌前突 HP:0000303
- 锁骨内侧增宽 HP:0006599
- 招风耳 HP:0000411
偶见 29–5%8
- 关节疼痛 HP:0002829
- 背部疼痛 HP:0003418
- 恒牙萌出延迟 HP:0000696
- 肌无力 HP:0001324
- 扁平椎 HP:0000926
- 脊柱侧弯 HP:0002650
- 颅骨薄 HP:0010539
- 缝间骨 HP:0002645
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）