交叉性多指(趾)并指(趾)畸形
Crossed polysyndactyly
ORPHA:2935疾病
定义 英文原文（暂无中文）
A rare, hereditary, congenital limb malformation characterized by polydactyly with crossed involvement of hands and feet with no other associated malformations or anomalies. Patients present with a combination of unilateral or bilateral preaxial polydactyly of hands with postaxial polydactyly of feet or postaxial polydactyly of hands with preaxial polydactyly of feet. Additional manifestations include bilateral cutaneous syndactyly of first, second and third toes and occasionally cutaneous syndactyly of hands.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 产前
- 患病率
- <1 / 1 000 000
临床表型 11
极常见 99–80%2
- 手指并指 HP:0006101
- 轴后多指畸形 HP:0001162
常见 79–30%1
- 皮纹异常 HP:0007477
偶见 29–5%8
- 外耳异常 HP:0000356
- 人中异常 HP:0000288
- 拇指发育不全或发育不良 HP:0009601
- 鼻梁塌陷 HP:0005280
- 听力异常 HP:0000364
- 阴茎发育不良 HP:0008736
- 斜视 HP:0000486
- 睑裂上斜 HP:0000582
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）