Seckel综合征
Seckel syndrome
ORPHA:808疾病
定义 英文原文（暂无中文）
A rare microcephalic primordial dwarfism characterized by severe proportionate short stature of prenatal onset, primary microcephaly, distinctive facial features, and mild to severe intellectual disability.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前
- 患病率
- 1-5 / 10 000
相关基因 15
| 基因 | 名称 | 关联类型 |
|---|---|---|
| ATR | ATR checkpoint kinase | Disease-causing germline mutation(s) in |
| CPAP | centrosome assembly and centriole elongation protein | Disease-causing germline mutation(s) in |
| PCNT | pericentrin | Candidate gene tested in |
| CEP152 | centrosomal protein 152 | Disease-causing germline mutation(s) in |
| CEP63 | centrosomal protein 63 | Disease-causing germline mutation(s) in |
| RBBP8 | RB binding protein 8, endonuclease | Disease-causing germline mutation(s) in |
| ATRIP | ATR interacting protein | Disease-causing germline mutation(s) in |
| NIN | ninein | Disease-causing germline mutation(s) in |
| DNA2 | DNA replication helicase/nuclease 2 | Disease-causing germline mutation(s) in |
| CENPE | centromere protein E | Disease-causing germline mutation(s) in |
| PLK4 | polo like kinase 4 | Disease-causing germline mutation(s) (loss of function) in |
| NSMCE2 | NSE2 SUMO ligase component of SMC5/6 complex | Disease-causing germline mutation(s) in |
| TRAIP | TRAF interacting protein | Disease-causing germline mutation(s) (loss of function) in |
| NUP85 | nucleoporin 85 | Disease-causing germline mutation(s) in |
| CEP295 | centrosomal protein 295 | Disease-causing germline mutation(s) in |
临床表型 26
极常见 99–80%15
- 恶病质 HP:0004326
- 第五指屈指畸形 HP:0004209
- 认知功能损害 HP:0100543
- 凸鼻嵴 HP:0000444
- 颅缝早闭 HP:0001363
- 骨成熟延迟 HP:0002750
- 智力障碍 HP:0001249
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 轻度全面发育延迟 HP:0011342
- 脸狭窄 HP:0000275
- 早衰面容 HP:0007495
- 木屐足 HP:0001852
- 身材矮小 HP:0004322
常见 79–30%10
- 牙釉质形态异常 HP:0000682
- 耳垂形态异常 HP:0000363
- 耳垂缺如 HP:0000387
- 锥形骨骺 HP:0010579
- 下斜睑裂 HP:0000494
- 青光眼 HP:0000501
- 髋关节发育不良 HP:0001385
- 关节过度活动 HP:0001382
- 脱发 HP:0002209
- 牙齿发育不全 HP:0009804
偶见 29–5%1
- 脊柱侧弯 HP:0002650
外部标识与链接
OrphanetOMIM:210600OMIM:606744OMIM:613676MONDO:0019342GARD:8562ICD-10 Q87.1ICD-11 LD24.DClinicalTrials.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）