轴中胚层发育不良谱系
Axial mesodermal dysplasia spectrum
定义 英文原文（暂无中文）
Axial mesodermal dysplasia spectrum is a rare developmental defect during embryogenesis syndrome characterized by congenital manifestations of both oculo-auriculo-vertebral spectrum and caudal regression sequence. Phenotype is highly variable but patients typically present facial dysmorphism (incl. asymmetry, hypertelorism), auricular abnormalities (e.g. preauricular tags, microtia, absence of middle ear ossicles), skeletal malformations (hemivertebrae, hip dislocation, sacral agenesis/dysplasia, talipes equinovarus, flexion deformity of lower limbs), cardiac defects (dextrocardia, septal defects), renal and genitourinary anomalies (such as renal agensis/dysplasia, abnormal external genitalia, cryptorchidia), as well as anal anomalies such as anal atresia and rectovesical fistula.
别名
Russell-Weaver-Bull综合征
基本事实
- 发病年龄
- 产前
临床表型 42
极常见 99–80%37
- 椎体形态异常 HP:0003312
- 小肠形态异常 HP:0002242
- 女性内生殖器形态异常 HP:0000008
- 肋骨形态异常 HP:0000772
- 骨盆带骨形态异常 HP:0002644
- 生殖系统异常 HP:0000078
- 膝关节异常 HP:0002815
- 肝脏异常 HP:0001392
- 骨骼系统异常 HP:0000924
- 脾脏异常 HP:0001743
- 输尿管异常 HP:0000069
- 泌尿系统异常 HP:0000079
- 肛门闭锁 HP:0002023
- 肛肠异常 HP:0012732
- 肺发育缺陷/不全 HP:0006703
- 大脑皮层萎缩 HP:0002120
- 先天性膈疝 HP:0000776
- 面部不对称 HP:0000324
- 胃食管反流 HP:0002020
- 牙龈增生 HP:0000212
- 脑积水 HP:0000238
- 眼距过宽 HP:0000316
- 角膜缘皮样囊肿 HP:0001140
- 小下颌 HP:0000347
- 小耳畸形 HP:0008551
- 肋骨缺失 HP:0000921
- 胃肠道形态异常 HP:0012718
- 羊水过少 HP:0001562
- 脐膨出 HP:0001539
- 耳前皮赘 HP:0000384
- 早产 HP:0001622
- 肾囊肿 HP:0000107
- 肾发育不良/不全 HP:0008678
- 脊柱侧弯 HP:0002650
- 短颈 HP:0000470
- 身材矮小 HP:0004322
- 椎体分节缺陷 HP:0003422
常见 79–30%5
- 肾脏位置异常 HP:0100542
- 神经系统异常 HP:0000707
- 便秘 HP:0002019
- 肾积水 HP:0000126
- 气管食管瘘 HP:0002575
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）