查理M综合征
Charlie M syndrome
ORPHA:1406疾病
定义 英文原文（暂无中文）
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the common manifestations found in oromandibular-limb hypogenesis syndromes(OLHS) group such as hypoplasia of the mandible, variable limb anomalies like syndactylyl and ectrodactyly, small mouth, cleft palate and hypodontia, accompanied by other clinical signs such as facial paralysis, facial asymmetry, hypertelorism, hypoglossia/aglossia, absent or conically crowned incisors and, ectromelia. There have been no further descriptions in the literature since 1976.
基本事实
- 遗传方式
- 不适用
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 16
极常见 99–80%11
- 指甲形态异常 HP:0001231
- 趾甲形态异常 HP:0008388
- 短指（趾） HP:0001156
- 手指并指 HP:0006101
- 眼距过宽 HP:0000316
- 小下颌 HP:0000347
- 小口畸形 HP:0000160
- 上唇非中线裂 HP:0100335
- 手劈裂 HP:0001171
- 下红唇薄 HP:0000233
- 牙齿发育不全 HP:0009804
常见 79–30%3
- 掌骨形态异常 HP:0005916
- 人中短 HP:0000322
- 宽鼻梁 HP:0000431
偶见 29–5%2
- 巨耳畸形 HP:0000400
- 三指节拇指 HP:0001199
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）