耳骨发育不全
Auriculoosteodysplasia
ORPHA:114疾病
定义 英文原文（暂无中文）
A rare primary bone dysplasia with multiple joint dislocations characterized by multiple osseous dysplasia, characteristic ear shape (elongation of the lobe that is attached and accompanied by a small, slightly posterior lobule) and short stature. Dysplasia of the radiocapitellar joint has been reported in all patients. There have been no further descriptions in the literature since 1967.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 10
极常见 99–80%6
- 锁骨形态异常 HP:0000889
- 耳垂发育缺陷/不全 HP:0009906
- 桡骨发育不良/发育不全 HP:0006501
- 附耳垂 HP:0009907
- 肘关节脱位 HP:0003042
- 身材矮小 HP:0004322
常见 79–30%1
- 髋关节发育不良 HP:0001385
偶见 29–5%3
- 掌骨形态异常 HP:0005916
- 手腕异常 HP:0003019
- 巨耳畸形 HP:0000400
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）