先天性成骨不全-小头畸形-白内障综合征
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
ORPHA:2772疾病
定义 英文原文（暂无中文）
A rare multiple congenital malformations/dysmorphic syndrome characterized by osteogenesis imperfecta with multiple prenatal bone fractures, joint laxity, severe microcephaly, and bilateral cataracts. Additional reported manifestations include dysmorphic facial features (such as blue sclerae, hypertelorism, and low-set ears), lissencephaly, hydrocephalus, and cardiac and genital anomalies. The syndrome is lethal in utero or shortly after birth. There have been no further descriptions in the literature since 1978.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 产前、新生儿期
- 患病率
- <1 / 1 000 000
临床表型 21
极常见 99–80%7
- 白内障 HP:0000518
- 不相称的短肢矮小 HP:0008873
- 胎儿宫内发育迟缓 HP:0001511
- 小头畸形 HP:0000252
- 短肢 HP:0002983
- 后旋耳 HP:0000358
- 复发性骨折 HP:0002757
常见 79–30%7
- 肋骨形态异常 HP:0000772
- 神经细胞迁移异常 HP:0002269
- 蓝巩膜 HP:0000592
- 颅骨骨化减少 HP:0005474
- 眼距过宽 HP:0000316
- 单脐动脉 HP:0001195
- 巨脑室 HP:0002119
偶见 29–5%7
- 外阴性别不明 HP:0000062
- 小脑发育缺陷/发育不全 HP:0007360
- 隐睾 HP:0000028
- 阴茎发育不良 HP:0008736
- 左心发育不全 HP:0004383
- 关节过度活动 HP:0001382
- 室间隔缺损 HP:0001629
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）