常染色体隐性脊椎肋骨发育不良
Autosomal recessive spondylocostal dysostosis
ORPHA:2311疾病
定义 英文原文（暂无中文）
A rare genetic axial skeletal dysostosis characterized by multiple segmentation defects of the vertebrae in combination with abnormalities of the ribs (malalignment, intercostal fusion and possible reduction in rib number), leading to short trunk in proportion to height, short neck and non-progressive scoliosis that is typically mild.
别名
Jarcho-Levin综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
相关基因 6
| 基因 | 名称 | 关联类型 |
|---|---|---|
| DLL3 | delta like canonical Notch ligand 3 | Disease-causing germline mutation(s) in |
| MESP2 | mesoderm posterior bHLH transcription factor 2 | Disease-causing germline mutation(s) in |
| LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase | Disease-causing germline mutation(s) in |
| HES7 | hes family bHLH transcription factor 7 | Disease-causing germline mutation(s) in |
| TBX6 | T-box transcription factor 6 | Disease-causing germline mutation(s) in |
| RIPPLY2 | ripply transcriptional repressor 2 | Disease-causing germline mutation(s) in |
临床表型 38
极常见 99–80%13
- 椎体形态异常 HP:0003312
- 椎间盘形态异常 HP:0005108
- 肋骨形态异常 HP:0000772
- 免疫系统功能异常 HP:0010978
- 胎儿宫内发育迟缓 HP:0001511
- 呼吸功能不全 HP:0002093
- 肋骨融合 HP:0000902
- 肋骨分节异常 HP:0006655
- 脊柱侧弯 HP:0002650
- 短颈 HP:0000470
- 身材矮小 HP:0004322
- 胸部短小 HP:0010306
- 椎体分节缺陷 HP:0003422
常见 79–30%1
- 脊柱后凸畸形（驼背） HP:0002808
偶见 29–5%24
- 心血管系统形态异常 HP:0030680
- 女性内生殖器形态异常 HP:0000008
- 输尿管异常 HP:0000069
- 肺静脉回流异常 HP:0010772
- 鼻孔前翻 HP:0000463
- 宽前额 HP:0000337
- 手指弯曲 HP:0100490
- 腭裂 HP:0000175
- 先天性膈疝 HP:0000776
- 隐睾 HP:0000028
- 鼻梁塌陷 HP:0005280
- 手指并指 HP:0006101
- 尿道下裂 HP:0000047
- 腹股沟疝 HP:0000023
- 智力障碍 HP:0001249
- 长人中 HP:0000343
- 巨头畸形 HP:0000256
- 脑脊膜膨出 HP:0002435
- 小头畸形 HP:0000252
- 后旋耳 HP:0000358
- 枕骨突出 HP:0000269
- 隐性脊柱裂 HP:0003298
- 脐疝 HP:0001537
- 泌尿生殖道瘘 HP:0100589
外部标识与链接
OrphanetOMIM:122600OMIM:277300OMIM:608681MONDO:0010180GARD:6798ICD-10 Q76.8ICD-11 LD24.HClinicalTrials.gov 检索
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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）