婴儿骨皮质增生症
Caffey disease
ORPHA:1310疾病
定义 英文原文（暂无中文）
Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.
别名
婴儿骨皮质增生症
基本事实
- 遗传方式
- 常染色体显性、未知
- 发病年龄
- 产前、儿童期、婴儿期、新生儿期
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| COL1A1 | collagen type I alpha 1 chain | Disease-causing germline mutation(s) in |
临床表型 14
极常见 99–80%2
- 蜂窝织炎 HP:0100658
- 骨皮质不规则 HP:0005731
常见 79–30%4
- 非典型行为 HP:0000708
- 发热 HP:0001945
- 感觉过敏 HP:0100963
- 长管状骨骨膜增厚 HP:0006465
偶见 29–5%8
- 颅骨骨质增生 HP:0004490
- 长骨骨干皮质增厚 HP:0005791
- 面部不对称 HP:0000324
- 婴儿期喂养困难 HP:0008872
- 循环抗体水平升高 HP:0010702
- 眼球突出 HP:0000520
- 呼吸功能不全 HP:0002093
- 脊柱侧弯 HP:0002650
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）