透明脊椎骨发育不全
Diaphanospondylodysostosis
ORPHA:66637疾病
定义 英文原文（暂无中文）
A rare primary bone dysplasia characterized by costovertebral ossification defects with small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent dysmorphic craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most common extraosseous manifestations are renal abnormalities such as multicystic kidneys. The disease is usually perinatally lethal due to respiratory insufficiency.
别名
DSD
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、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 |
|---|---|---|
| BMPER | BMP binding endothelial regulator | Disease-causing germline mutation(s) (loss of function) in |
临床表型 11
极常见 99–80%10
- 椎体分节和融合异常 HP:0005640
- 椎体缺如或低骨化 HP:0004599
- 胸廓扩张 HP:0100625
- 肋骨缺失 HP:0000921
- 多发性肾囊肿 HP:0005562
- 脊髓脊膜膨出 HP:0002475
- 骨盆狭窄 HP:0003275
- 呼吸窘迫 HP:0002098
- 短颈 HP:0000470
- 胸部短小 HP:0010306
偶见 29–5%1
- 腭裂 HP:0000175
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）