小头畸形-癫痫-智力低下-心脏病综合征
Microcephaly-seizures-intellectual disability-heart disease syndrome
ORPHA:2519疾病
定义 英文原文（暂无中文）
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by microcephaly, intellectual disability, seizures, and congenital heart defects (e.g. atrial/ventricular septal defect, hypoplastic aortic arch with persistent ductus arteriosus). Additional manifestations include mild hypothyroidism, skeletal abnormalities, micropenis, delayed psychomotor development, dysmorphic facial features (including epicanthus, depressed nasal bridge, prominent antitragus), and pulmonary vascular occlusive disease. There have been no further descriptions in the literature since 1989.
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%8
- 房间隔缺损 HP:0001631
- 先天性甲状腺功能减退症 HP:0000851
- 先天性眼球震颤 HP:0006934
- 婴儿型肌张力减退 HP:0008947
- 全面发育迟缓 HP:0001263
- 智力障碍 HP:0001249
- 小阴茎 HP:0000054
- 癫痫发作 HP:0001250
常见 79–30%16
- 肋骨形态异常 HP:0000772
- 胸骨形态异常 HP:0000766
- 宽肋骨 HP:0000885
- 隐睾 HP:0000028
- 内眦赘皮 HP:0000286
- 内斜视 HP:0000565
- 胼胝体发育不良 HP:0002079
- 小头畸形 HP:0000252
- 动脉导管未闭 HP:0001643
- 轴后多指畸形 HP:0001162
- 肺动脉高压 HP:0002092
- 颈部皮肤增厚 HP:0005989
- 呼吸窘迫 HP:0002098
- 短肋 HP:0000773
- 多乳头 HP:0002558
- 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）