镜像多指(趾)畸形-脊椎骨分节障碍-肢体缺损综合征
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
ORPHA:3004疾病
定义 英文原文（暂无中文）
A rare disorder characterized by mirror polydactyly, vertebral hypersegmentation and severe congenital limb deficiencies. Duodenal atresia and absent thymus were also reported. So far, it has been described in four unrelated infants identified through a congenital malformation screening program carried out in Spain. The prevalence was estimated at around 1 in 330,000. The etiology is unknown but it was suggested that the syndrome is caused by defective expression of a developmental control gene.
基本事实
- 发病年龄
- 产前、婴儿期、新生儿期
- 患病率
- 1-9 / 1 000 000（Spain）
临床表型 7
极常见 99–80%5
- 十二指肠闭锁 HP:0002247
- 短肢畸形 HP:0009829
- 身材矮小 HP:0004322
- 手劈裂 HP:0001171
- 椎体分节缺陷 HP:0003422
常见 79–30%2
- 胸腺发育不全 HP:0005359
- 多趾 HP:0001829
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）