胫骨缺如-多指(趾)畸形-蛛网膜囊肿综合征
Absent tibia-polydactyly-arachnoid cyst syndrome
ORPHA:3328疾病
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by absence/hypoplasia of tibia, postaxial polydactyly of the hands, pre and /or postaxial polydactyly of the feet and retrocerebellar arachnoid cyst. Bowing of the radius and ulna and syndactyly may also be present. Additional clinical features may include ventriculomegaly, cleft lip, diaphragmatic agenesis and malrotation of the colon. There have been no further descriptions in the literature since 1995.
别名
Holmes-Collins综合征
基本事实
- 遗传方式
- 未知
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
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）