X染色体五倍体
Pentasomy X syndrome
定义 英文原文（暂无中文）
A rare sex-chromosome number anomaly characterized by the presence of five X chromosomes in females instead of the usual two. Patients present with global developmental delay, intellectual disability, musculoskeletal abnormalities (mostly small hands and feet, camptodactyly, clinodactyly, radioulnar synostosis), and craniofacial anomalies (such as microcephaly, plagiocephaly, upslanting palpebral fissures, hypertelorism, flat nasal bridge, ear malformations, microganthia). Cardiovascular malformations can sometimes be present as well as immunoglobulin anomalies and an increased susceptibility to infections. External genitalia are generally normal but gonadal dysfunction has been reported.
别名
49,XXXXX综合征
基本事实
- 发病年龄
- 新生儿期
临床表型 22
极常见 99–80%2
- 肌张力减退 HP:0001252
- 后旋耳 HP:0000358
常见 79–30%15
- 手指弯曲 HP:0100490
- 第五指屈指畸形 HP:0004209
- 全面发育迟缓 HP:0001263
- 眼距过宽 HP:0000316
- 智力障碍 HP:0001249
- 小头畸形 HP:0000252
- 小下颌 HP:0000347
- 斜头畸形 HP:0001357
- 桡尺骨融合 HP:0002974
- 短足 HP:0001773
- 身材矮小 HP:0004322
- 小手 HP:0200055
- 斜视 HP:0000486
- 睑裂上斜 HP:0000582
- 宽鼻梁 HP:0000431
偶见 29–5%5
- 心脏间隔异常 HP:0001671
- 免疫系统功能异常 HP:0010978
- 青春期发育延迟 HP:0000823
- 髋关节发育不良 HP:0001385
- 动脉导管未闭 HP:0001643
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）