尺骨干骺端发育不良综合征
Metaphyseal chondrodysplasia, Rosenberg type
ORPHA:1837疾病
定义 英文原文（暂无中文）
Ulna metaphyseal dysplasia syndrome is a rare primary bone dysplasia characterized by dysplasia of the distal ulnar metaphyses, as well as metacarpal/metatarsal dysplasia and metaphyseal changes resembling enchondromata. Patients usually present bony swelling of the wrists with or without pain (knees and ankles may also be affected). Other variably associated features include platyspondyly, skeletal development delay, short stature and coxa valga.
别名
Rosenberg-Lohr综合征
基本事实
- 发病年龄
- 青少年期
- 患病率
- <1 / 1 000 000
临床表型 15
极常见 99–80%5
- 干骺端形态异常 HP:0000944
- 尺骨形态异常 HP:0040071
- 髋骨形态异常 HP:0003272
- 桡骨发育不良/发育不全 HP:0006501
- 骨成熟延迟 HP:0002750
常见 79–30%4
- 腓骨形态异常 HP:0002991
- 椎体形态异常 HP:0003312
- 掌骨形态异常 HP:0005916
- 身材矮小 HP:0004322
偶见 29–5%6
- 牙齿形态异常 HP:0006482
- 牙列异常 HP:0000164
- 声音异常 HP:0001608
- 鼻嵴凹陷 HP:0000457
- 小牙畸形 HP:0000691
- 肾结石 HP:0000787
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）