拇指缺如-身材矮小-免疫缺陷综合征
Absent thumb-short stature-immunodeficiency syndrome
ORPHA:2951疾病
定义 英文原文（暂无中文）
A rare syndrome with combined immunodeficiency characterized by thumb aplasia, short stature with skeletal abnormalities including unfused olecranon, and combined immunodeficiency manifested with severe chickenpox and chronic candidiasis. Additional clinical features may include flat facies, anosmia, congenital septal defects and delayed puberty. There have been no further descriptions in the literature since 1978.
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）