14号染色体嵌合三体
Mosaic trisomy 14 syndrome
ORPHA:1703疾病
定义 英文原文（暂无中文）
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.
别名
14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 30
极常见 99–80%12
- 心血管系统形态异常 HP:0030680
- 染色体分离异常 HP:0002916
- 发育迟滞 HP:0001508
- 前额突出 HP:0002007
- 全面发育迟缓 HP:0001263
- 高腭 HP:0000218
- 智力障碍 HP:0001249
- 小下颌 HP:0000347
- 鼻梁突出 HP:0000426
- 短颈 HP:0000470
- 宽嘴 HP:0000154
- 宽鼻梁 HP:0000431
常见 79–30%13
- 鼻孔前翻 HP:0000463
- 双侧单掌横折痕 HP:0007598
- 眼睑裂狭小 HP:0000581
- 腭裂 HP:0000175
- 隐睾 HP:0000028
- 肛门异位 HP:0004397
- 眼距过宽 HP:0000316
- 阴茎发育不良 HP:0008736
- 尿道下裂 HP:0000047
- 小耳畸形 HP:0008551
- 窄胸 HP:0000774
- 后旋耳 HP:0000358
- 癫痫发作 HP:0001250
偶见 29–5%5
- 肋骨形态异常 HP:0000772
- 眼睛发育缺陷/不全 HP:0008056
- 手指弯曲 HP:0100490
- 下肢不对称 HP:0100559
- 上睑下垂 HP:0000508
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）