脊柱裂-尿道下裂综合征
Spina bifida-hypospadias syndrome
ORPHA:3176疾病
定义 英文原文(暂无中文)
Spina bifida-hypospadias syndrome is a rare developmental defect during embryogenesis disorder characterized by the specific association of glandular hypospadias and lumbo-sacral spina bifida. Affected individuals may or may not present additional congenital anomalies, such as hydrocephaly, microstomia, patent ductus arteriosus, cryptorchidism, intestinal malrotation, rocker-bottom feet, and hypertrichosis.
基本事实
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- 1-9 / 100 000(Spain)
临床表型 3
极常见 99–80%3
- 尿道下裂 HP:0000047
- 脊柱裂 HP:0002414
- 椎管闭合不全 HP:0010301
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)