17号染色体长臂远端三体
Distal duplication 17q syndrome
ORPHA:3379疾病
定义 英文原文（暂无中文）
Distal trisomy 17q is a rare chromosomal anomaly syndrome with variable phenotype principally characterized by intellectual disability, developmental delay, short stature, craniofacial dysmorphism (incl. microcephaly, low posterior hairline, frontal bossing, bitemporal narrowing, low-set and malformed ears, flat nasal bridge, long philtrum, wide mouth with downturned corners, thin upper lip) and a short, webbed neck, as well as skeletal anomalies (e.g. brachyrhizomelia, poly-/syndactyly) and joint hyperlaxity. Cardiac, cerebral, and urogenital anomalies are also frequently associated.
别名
17号染色体长臂远端重复
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 42
极常见 99–80%2
- 全面发育迟缓 HP:0001263
- 重度智力障碍 HP:0010864
常见 79–30%27
- 颞骨形态异常 HP:0009911
- 眼睑裂狭小 HP:0000581
- 腭裂 HP:0000175
- 隐睾 HP:0000028
- 鼻梁塌陷 HP:0005280
- 内眦赘皮 HP:0000286
- 阵发性呕吐 HP:0002572
- 前额突出 HP:0002007
- 膝外翻 HP:0002857
- 拇趾外翻 HP:0001822
- 多指 HP:0001161
- 高腭 HP:0000218
- 眼距过宽 HP:0000316
- 后发际低 HP:0002162
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 鸡胸 HP:0000768
- 高弓足 HP:0001761
- 后旋耳 HP:0000358
- 肢体近端缩短 HP:0008905
- 严重的身材矮小 HP:0003510
- 鼻小柱短小 HP:0002000
- 人中短 HP:0000322
- 身材矮小 HP:0004322
- 薄上唇红 HP:0000219
- 膀胱输尿管返流 HP:0000076
- 宽嘴 HP:0000154
偶见 29–5%13
- 外展神经麻痹 HP:0006897
- 心脏形态异常 HP:0001627
- 副脾 HP:0001747
- 细长指(趾) HP:0001166
- 双侧感音神经性听觉受损 HP:0008619
- 小脑发育不全 HP:0001321
- 多动症 HP:0000752
- 关节过度活动 HP:0001382
- 重叠趾 HP:0001845
- 招风耳 HP:0000411
- 肾重复 HP:0000075
- 脊柱侧弯 HP:0002650
- 癫痫发作 HP:0001250
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）