Oliver综合征
Oliver syndrome
ORPHA:2920疾病
定义 英文原文(暂无中文)
A rare multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability and postaxial polydactyly of the hands, and sometimes of the feet. Seizures are also common and usually manifest in the first months of life or in early childhood. Other clinical signs may include cutaneous syndactyly, camptodactyly and clinodactyly of fingers and brachydactyly and syndactyly of the toes. There have been no further descriptions in the literature since 1983.
别名
轴后多指(趾)-智力障碍综合征
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 25
极常见 99–80%2
- 极重度智力障碍 HP:0002187
- 轴后多指畸形 HP:0001162
常见 79–30%7
- 语言缺失 HP:0001344
- 双侧强直- 阵挛发作 HP:0002069
- 手指皮肤性并指 HP:0010554
- 下颌前突 HP:0000303
- 少言寡语 HP:0002465
- 轴后多趾 HP:0001830
- 短趾 HP:0001831
偶见 29–5%16
- 耳垂缺如 HP:0000387
- 手指弯曲 HP:0100490
- 第五指屈指畸形 HP:0004209
- 牙齿错位咬合 HP:0000689
- 肘屈曲挛缩 HP:0002987
- 高腭 HP:0000218
- 指甲异常凸起 HP:0001812
- 胎儿宫内发育迟缓 HP:0001511
- 膝关节屈曲挛缩 HP:0006380
- 小头畸形 HP:0000252
- 指尖垫突出 HP:0001212
- 脊柱侧弯 HP:0002650
- 人中短 HP:0000322
- 小耳垂 HP:0000385
- 多乳头 HP:0002558
- 眉毛浓密 HP:0000574
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)