Coffin-Siris综合征
Coffin-Siris syndrome
ORPHA:1465疾病
定义 英文原文（暂无中文）
A rare genetic syndromic intellectual disability of broad phenotypic range characterized by developmental delay and variable clinical features which most commonly, but not consistently, include aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, and coarse facial features.
别名
CSS
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 11
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SMARCB1 | SWI/SNF related BAF chromatin remodeling complex subunit B1 | Disease-causing germline mutation(s) in |
| SMARCA4 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 | Disease-causing germline mutation(s) in |
| ARID1B | AT-rich interaction domain 1B | Disease-causing germline mutation(s) in |
| ARID1A | AT-rich interaction domain 1A | Disease-causing germline mutation(s) in |
| SMARCE1 | SWI/SNF related BAF chromatin remodeling complex subunit E1 | Disease-causing germline mutation(s) in |
| SOX11 | SRY-box transcription factor 11 | Disease-causing germline mutation(s) in |
| ARID2 | AT-rich interaction domain 2 | Disease-causing germline mutation(s) (loss of function) in |
| SMARCC2 | SWI/SNF related BAF chromatin remodeling complex subunit C2 | Disease-causing germline mutation(s) in |
| SMARCD1 | SWI/SNF related BAF chromatin remodeling complex subunit D1 | Disease-causing germline mutation(s) in |
| DPF2 | double PHD fingers 2 | Disease-causing germline mutation(s) in |
| SOX4 | SRY-box transcription factor 4 | Disease-causing germline mutation(s) in |
临床表型 65
极常见 99–80%8
- 面容粗糙 HP:0000280
- 喂养困难 HP:0011968
- 多毛症 HP:0000998
- 睫毛突出 HP:0011231
- 微甲 HP:0001792
- 眉毛浓密 HP:0000574
- 厚下红唇 HP:0000179
- 宽嘴 HP:0000154
常见 79–30%37
- 面部形状异常 HP:0001999
- 心脏形态异常 HP:0001627
- 泌尿生殖系统异常 HP:0000119
- 鼻孔前翻 HP:0000463
- 吸入性肺炎 HP:0011951
- 非典型行为 HP:0000708
- 宽鼻尖 HP:0000455
- 宽人中 HP:0000289
- 指（趾）内弯 HP:0030084
- 隐睾 HP:0000028
- 牙齿萌出延迟 HP:0000684
- 骨成熟延迟 HP:0002750
- 鼻梁塌陷 HP:0005280
- 婴儿型肌张力减退 HP:0008947
- 生长延迟 HP:0001510
- 听力受损 HP:0000365
- 多毛症；女性多毛症 HP:0001007
- 第5指甲发育不良 HP:0008398
- 第5趾甲发育不良 HP:0011937
- 中度智力障碍 HP:0002342
- 重度智力障碍 HP:0010864
- 关节过度活动 HP:0001382
- 前发际低 HP:0000294
- 出生后生长迟缓 HP:0008897
- 上睑下垂 HP:0000508
- 反复感染 HP:0002719
- 复发性上呼吸道感染 HP:0002788
- 脊柱侧弯 HP:0002650
- 癫痫发作 HP:0001250
- 第五指发育不全或不发育 HP:0009237
- 短鼻 HP:0003196
- 脱发 HP:0002209
- 斜视 HP:0000486
- 鼻翼增厚 HP:0009928
- 薄上唇红 HP:0000219
- 视觉障碍 HP:0000505
- 宽鼻底 HP:0012810
偶见 29–5%16
- 语言缺失 HP:0001344
- 胼胝体发育不全 HP:0001274
- 攻击性行为 HP:0000718
- 房间隔缺损 HP:0001631
- 自闭症行为 HP:0000729
- 第四脑室孔闭塞综合征（Dandy-Walker畸形） HP:0001305
- 疝 HP:0100790
- 马蹄肾 HP:0000085
- 多动症 HP:0000752
- 尿道下裂 HP:0000047
- 近视 HP:0000545
- 口服厌恶 HP:0012523
- 动脉导管未闭 HP:0001643
- 简化脑回模式 HP:0009879
- 法洛四联症 HP:0001636
- 室间隔缺损 HP:0001629
罕见 <4–1%4
- 肝母细胞瘤 HP:0002884
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
- 甲状腺乳头状癌 HP:0002895
外部标识与链接
OrphanetOMIM:135900OMIM:614607OMIM:614608MONDO:0015452GARD:6124ICD-10 Q87.1ICD-11 LD27.0YClinicalTrials.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）