Thakker-Donnai综合征
Thakker-Donnai syndrome
定义 英文原文（暂无中文）
A rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (including long, downward slanting palpebral fissures, hypertelorism, posteriorly rotated ears, broad nasal bridge, short nose with a bulbous tip and anteverted nares, downturned corners of the mouth) as well as vertebral (occult spina bifida, hemivertebrae), brain (ventricular dilatation, agenesis of corpus callosum), cardiac (tetralogy of Fallot, ventricular septal defect) and gastrointestinal (short esophagus with intrathoracic stomach, small intestine, spleen and pancreas, anal atresia) malformations. There have been no further descriptions in the literature since 1991.
别名
畸形-多发性结构畸形综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 25
极常见 99–80%13
- 鼻孔前翻 HP:0000463
- 蒜头鼻 HP:0000414
- 颈C2/C3椎体融合 HP:0004602
- 嘴角下弯 HP:0002714
- 半椎体 HP:0002937
- 眼距过宽 HP:0000316
- 肌张力减退 HP:0001252
- 睑裂增宽 HP:0000637
- 小口畸形 HP:0000160
- 后旋耳 HP:0000358
- 短颈 HP:0000470
- 睑裂上斜 HP:0000582
- 蹼颈 HP:0000465
常见 79–30%12
- 胼胝体发育不全 HP:0001274
- 肛门闭锁 HP:0002023
- 交通性脑积水 HP:0001334
- 先天性膈疝 HP:0000776
- 肾积水 HP:0000126
- 胎儿宫内发育迟缓 HP:0001511
- 巨耳畸形 HP:0000400
- 直肠阴道瘘 HP:0000143
- 法洛四联症 HP:0001636
- 气管食管瘘 HP:0002575
- 大动脉转位 HP:0001669
- 室间隔缺损 HP:0001629
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）