10号染色体长臂非远端三体
Non-distal duplication 10q syndrome
定义 英文原文（暂无中文）
Non-distal trisomy 10q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 10, characterized by mild to moderate developmental delay, postnatal growth retardation, central hypotonia, craniofacial dysmorphism (incl. microcephaly, prominent forehead, flat, thick ear helices, deep-set, small eyes, epicanthus, upturned nose, bow-shaped mouth, highly arched palate, micrognathia), ocular anomalies (e.g. iris coloboma, retinal dysplasia, strabismus), long, slender limbs and skeletal and digital anomalies (scoliosis, poly/syndactyly). Additional features reported include cardiac defects (e.g. septal ventricular defect), anal atresia, and cryptorchidism.
别名
10号染色体长臂非远端重复
基本事实
- 发病年龄
- 新生儿期
- 患病率
- Not yet documented
临床表型 24
极常见 99–80%15
- 染色体分离异常 HP:0002916
- 眼睑裂狭小 HP:0000581
- 认知功能损害 HP:0100543
- 鼻梁塌陷 HP:0005280
- 下斜睑裂 HP:0000494
- 下唇唇红外翻 HP:0000232
- 前额突出 HP:0002007
- 额头高 HP:0000348
- 眼距过宽 HP:0000316
- 关节过度活动 HP:0001382
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 后旋耳 HP:0000358
- 短鼻 HP:0003196
- 身材矮小 HP:0004322
常见 79–30%7
- 眼睛发育缺陷/不全 HP:0008056
- 短头畸形 HP:0000248
- 凸鼻嵴 HP:0000444
- 隐睾 HP:0000028
- 高腭 HP:0000218
- 漏斗胸 HP:0000767
- 脊柱侧弯 HP:0002650
偶见 29–5%2
- 心血管系统形态异常 HP:0030680
- 泌尿系统异常 HP:0000079
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）