拇内翻-轴前多指(趾)综合征
Hallux varus-preaxial polysyndactyly syndrome
ORPHA:2110疾病
定义 英文原文(暂无中文)
Hallux varus-preaxial polysyndactyly syndrome is a rare, genetic, congenital limb malformation disorder characterized by bilateral medial displacement of the hallux and preaxial polysyndactyly of the first toes. Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of distal phalanges. There have been no further descriptions in the literature since 1980.
别名
Kleiner-Holmes综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 2
极常见 99–80%1
- 木屐足 HP:0001852
常见 79–30%1
- 第五指屈指畸形 HP:0004209
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)