脑畸形-先天性心脏病-轴后性多指综合征
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intrauterine growth retardation, multiple congenital malformations (such as brain malformations including ectopic neuropituitary gland, hypoplastic adenopituitary, and hypoplastic cerebellar vermis, cardiac and renal anomalies, and postaxial polydactyly), abnormal hair structure with temporal balding, and dysmorphic facial features with hypoplastic nasal bridge, anteverted nostrils, dysplastic ears, long and smooth philtrum, narrow upper lip, and prominent, asymmetric lower lip. Postnatal growth retardation and severe developmental delay have also been reported.
别名
Goossens-Devriendt综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 24
极常见 99–80%13
- 耳廓形态异常 HP:0000377
- 鼻孔前翻 HP:0000463
- 鼻梁塌陷 HP:0005280
- 下唇唇红外翻 HP:0000232
- 肌张力减退 HP:0001252
- 胎儿宫内发育迟缓 HP:0001511
- 长人中 HP:0000343
- 甲营养不良 HP:0008404
- 轴后多指畸形 HP:0001162
- 严重的全面性发育迟缓 HP:0011344
- 身材矮小 HP:0004322
- 睑裂上斜 HP:0000582
- 室间隔缺损 HP:0001629
常见 79–30%9
- 脱发 HP:0001596
- 小脑蚓部发育缺陷/发育不全 HP:0006817
- 房间隔缺损 HP:0001631
- 毛发干枯 HP:0002299
- 小脑发育不全 HP:0001321
- 毛发粗糙 HP:0002208
- 肺动脉狭窄 HP:0004415
- 肾发育不全 HP:0000089
- 乳头间距宽 HP:0006610
偶见 29–5%2
- 垂体前叶异常 HP:0011747
- 垂体后叶发育不全 HP:0011757
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）