口面指综合征6型
Orofaciodigital syndrome type 6
ORPHA:2754疾病亚型
定义 英文原文（暂无中文）
Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.
别名
多指(趾)畸形-唇/腭裂-精神运动发育迟缓综合征
基本事实
- 遗传方式
- 常染色体隐性、X 连锁隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 10
| 基因 | 名称 | 关联类型 |
|---|---|---|
| OFD1 | OFD1 centriole and centriolar satellite protein | Disease-causing germline mutation(s) in |
| TOPORS | TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase | Disease-causing germline mutation(s) in |
| TMEM216 | transmembrane protein 216 | Disease-causing germline mutation(s) in |
| KIF7 | kinesin family member 7 | Disease-causing germline mutation(s) in |
| CPLANE1 | ciliogenesis and planar polarity effector complex subunit 1 | Disease-causing germline mutation(s) in |
| TCTN3 | tectonic family member 3 | Disease-causing germline mutation(s) in |
| TMEM231 | transmembrane protein 231 | Disease-causing germline mutation(s) in |
| PDE6D | phosphodiesterase 6D | Disease-causing germline mutation(s) (loss of function) in |
| KIAA0753 | KIAA0753 | Disease-causing germline mutation(s) in |
| FAM149B1 | family with sequence similarity 149 member B1 | Disease-causing germline mutation(s) in |
临床表型 52
常见 79–30%34
- 口腔系带形态异常 HP:0000190
- 共济失调 HP:0001251
- 双侧隐睾 HP:0008689
- 双侧顶骨部收窄 HP:0004422
- 短指（趾） HP:0001156
- 宽鼻尖 HP:0000455
- 腭裂 HP:0000175
- 传导性听力受损 HP:0000405
- 内眦赘皮 HP:0000286
- 内斜视 HP:0000565
- 发育迟滞 HP:0001508
- 婴儿期喂养困难 HP:0008872
- 指弯曲 HP:0040019
- 前额突出 HP:0002007
- 步态异常 HP:0001288
- 全身性肌张力减低 HP:0001290
- 全面发育迟缓 HP:0001263
- 生长延迟 HP:0001510
- 舌错构瘤 HP:0011802
- 高腭 HP:0000218
- 眼距过宽 HP:0000316
- 嗅束发育不良 HP:0007036
- 肌张力减退 HP:0001252
- 智力障碍 HP:0001249
- 分叶舌 HP:0000180
- 长脸 HP:0000276
- 小下颌 HP:0000347
- 磁共振磨牙征 HP:0002419
- 眼球震颤 HP:0000639
- 后旋耳 HP:0000358
- 轴前多指（趾） HP:0100258
- 身材矮小 HP:0004322
- 并指（趾）畸形 HP:0001159
- 舌结节 HP:0000199
偶见 29–5%18
- 心脏形态异常 HP:0001627
- 神经细胞迁移异常 HP:0002269
- 胼胝体发育缺陷/发育不全 HP:0007370
- 呼吸暂停 HP:0002104
- 中央Y形掌骨 HP:0006145
- 小脑蚓部发育不全 HP:0001320
- 阵发性呼吸急促 HP:0002876
- 多趾 HP:0001829
- 多指 HP:0001161
- 高拱形眉毛 HP:0002553
- 下丘脑错构瘤 HP:0002444
- 中轴多指（趾） HP:0100260
- 上牙床中线缺口 HP:0009084
- 鼻梁突出 HP:0000426
- 肾缺如 HP:0000104
- 肾发育不良/不全 HP:0008678
- 癫痫发作 HP:0001250
- 震颤 HP:0001337
外部标识与链接
OrphanetOMIM:277170OMIM:300804OMIM:614815MONDO:0010176GARD:4412ICD-10 Q04.3ICD-11 LD25.00ClinicalTrials.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）