2号染色体嵌合三体
Mosaic trisomy 2 syndrome
ORPHA:1723疾病
定义 英文原文（暂无中文）
Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.
别名
2号染色体嵌合三体
基本事实
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 24
常见 79–30%8
- 粗大运动发育迟缓 HP:0002194
- 疝 HP:0100790
- 眼距过宽 HP:0000316
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
- 面中部后缩 HP:0011800
- 羊水过少 HP:0001562
- 出生后生长迟缓 HP:0008897
偶见 29–5%16
- 心脏形态异常 HP:0001627
- 无神经节性巨结肠 HP:0002251
- 唇裂 HP:0410030
- 腭裂 HP:0000175
- 长头畸形 HP:0000268
- 桡骨发育不全 HP:0002984
- 尺骨发育不良 HP:0003022
- 肠旋转不良 HP:0002566
- 小眼症 HP:0000568
- 神经管缺损 HP:0045005
- 神经发育延迟 HP:0012758
- 轴前多指 HP:0001177
- 脊柱侧弯 HP:0002650
- 脊柱裂 HP:0002414
- 薄胼胝体 HP:0033725
- 巨脑室 HP:0002119
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）