罗宾序列-少指畸形综合征
Robin sequence-oligodactyly syndrome
ORPHA:3104疾病
定义 英文原文(暂无中文)
Robin sequence-oligodactyly syndrome is a rare, genetic, developmental defect during embryogenesis syndrome characterized by Robin sequence (i.e. severe micrognathia, retroglossia and U-shaped cleft of the posterior palate) associated with pre- and postaxial oligodactyly. Facial features can include a narrow face and narrow lower dental arch. Clinodactyly, absent phalanx, metacarpal fusions, and hypoplastic carpals have also been reported. There have been no further descriptions in the literature since 1986.
别名
pierre Robin序列征-少指(趾)畸形综合征
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 10
极常见 99–80%4
- 尺骨形态异常 HP:0040071
- 手指发育不全 HP:0009380
- 舌后坠 HP:0000162
- 小下颌 HP:0000347
常见 79–30%5
- 掌骨形态异常 HP:0005916
- 牙列异常 HP:0000164
- 腭裂 HP:0000175
- 第五指屈指畸形 HP:0004209
- 脸狭窄 HP:0000275
偶见 29–5%1
- 椎体形态异常 HP:0003312
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)