Curry-Jones综合征
Curry-Jones syndrome
定义 英文原文（暂无中文）
Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.
别名
胼胝体发育不全-多指综合征
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
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| SMO | smoothened, frizzled class receptor | Disease-causing somatic mutation(s) in |
临床表型 19
极常见 99–80%3
- 手指并指 HP:0006101
- 眼距过宽 HP:0000316
- 皮肤色素减退斑 HP:0001053
常见 79–30%12
- 拇指指骨异常 HP:0009602
- 胼胝体发育不全 HP:0001274
- 皮肤发育缺陷/不全 HP:0008065
- 拇指变宽 HP:0011304
- 颅缝早闭 HP:0001363
- 面部不对称 HP:0000324
- 多趾 HP:0001829
- 全身性多毛症 HP:0002230
- 智力障碍 HP:0001249
- 小眼症 HP:0000568
- 并趾 HP:0001770
- 巨脑室 HP:0002119
偶见 29–5%4
- 肠旋转不良 HP:0002566
- 虹膜缺损 HP:0000612
- 视盘缺损 HP:0000588
- 轴前多指 HP:0001177
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）