7号染色体嵌合三体
Mosaic trisomy 7 syndrome
ORPHA:1747疾病
定义 英文原文（暂无中文）
Mosaic trisomy 7 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, mostly characterized by blaschkolinear skin pigmentary dysplasia, body asymmetry, enamel dysplasia, and developmental and growth delay. Intellectual disability, facial dysmorphism (e.g. frontal bossing, abnormal palpebral fissures, strabismus, abnormally shaped ears, and micrognathia), and genital anomalies (e.g. undescended testes) have also been observed. It has been reported to be associated with maternal uniparental disomy of chromosome 7, resulting in a Silver-Russell syndrome phenotype. Cases with no associated malformations have also been reported.
别名
7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 18
常见 79–30%4
- 皮肤色素脱失/色素沉着 HP:0007483
- 胎儿宫内发育迟缓 HP:0001511
- 黄斑色素减退 HP:0007988
- 出生后生长迟缓 HP:0008897
偶见 29–5%14
- 心脏形态异常 HP:0001627
- 腭裂 HP:0000175
- 牙釉质发育不全 HP:0006297
- 面部不对称 HP:0000324
- 胎儿囊状水瘤 HP:0010878
- 高血压 HP:0000822
- 多毛症 HP:0000998
- 腹股沟疝 HP:0000023
- 巨头畸形 HP:0000256
- 小下颌 HP:0000347
- 轻度全面发育延迟 HP:0011342
- 早产 HP:0001622
- 肾发育不良 HP:0000110
- 小于胎龄儿 HP:0001518
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）