脊柱周边发育不全-短尺骨综合征
Spondyloperipheral dysplasia-short ulna syndrome
ORPHA:1856疾病
定义 英文原文（暂无中文）
Spondyloperipheral dysplasia-short ulna syndrome is a rare, genetic, primary bone dysplasia, with highly variable phenotype, typically characterized by platyspondyly, brachydactyly type E changes (short metacarpals and metatarsals, short distal phalanges in hands and feet), bilateral short ulnae and mild short stature. Other reported features include additional skeletal findings (e.g. midface hypoplasia, degenerative changes in proximal femora, limited elbow extension, bilateral sacralization of L5, clubfeet), as well as myopia, hearing loss, and intellectual disability.
基本事实
- 遗传方式
- 常染色体显性
- 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 |
|---|---|---|
| COL2A1 | collagen type II alpha 1 chain | Disease-causing germline mutation(s) in |
临床表型 23
常见 79–30%12
- 髋关节形态异常 HP:0001384
- 椎骨终板异常 HP:0005106
- 四肢骨发育不良/发育不全 HP:0045060
- 腭裂 HP:0000175
- 耻骨骨化延迟 HP:0008788
- 不成比例的身材矮小 HP:0003498
- 扁平骨骺 HP:0003071
- 听力受损 HP:0000365
- 尺骨发育不良 HP:0003022
- 不规则骨骺 HP:0010582
- 近视 HP:0000545
- E型短指（趾） HP:0005863
偶见 29–5%11
- 髋关节痛 HP:0003365
- 拇趾变宽 HP:0010055
- 白内障 HP:0000518
- 股骨头扁平 HP:0008812
- 髋关节发育不良 HP:0001385
- 伸肘受限 HP:0001377
- 卵形椎体 HP:0003300
- 扁平椎 HP:0000926
- 视网膜脱离 HP:0000541
- 短跖骨 HP:0010743
- 畸形足 HP:0001883
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）