脊椎骨骺发育不良症
Opsismodysplasia
定义 英文原文（暂无中文）
A rare skeletal dysplasia characterized by pre-or postnatal severe rhizomelic micromelia with short long bones (congenital dwarfism), extremely short feet and hands, major delay in skeletal ossification, metaphyseal cupping, severe platyspondyly, muscular hypotonia and facial dysmorphism (including macrocephaly, large anterior fontanelle, arched and prominent eyebrows, hypertelorism, exophthalmos, depressed nasal bridge, small anteverted nose with relatively broad nares, long philtrum and thin upper lip). Patients also present with short neck, narrow, bell-shaped thorax. Circumferential skin creases (especially in the upper arms, hands, and feet) and recurrent respiratory tract infections (that followed a fatal course in some cases) have also been reported.
基本事实
- 遗传方式
- 常染色体隐性
- 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 |
|---|---|---|
| INPPL1 | inositol polyphosphate phosphatase like 1 | Disease-causing germline mutation(s) in |
临床表型 27
极常见 99–80%17
- 干骺端形态异常 HP:0000944
- 骨骺形态异常 HP:0005930
- 椎骨异常骨化 HP:0100569
- 短指（趾） HP:0001156
- 骨成熟延迟 HP:0002750
- 鼻梁塌陷 HP:0005280
- 前额突出 HP:0002007
- 坐骨发育不全 HP:0003175
- 耻骨发育不全 HP:0003173
- 椎体发育不良 HP:0008479
- 大囟门 HP:0000239
- 巨头畸形 HP:0000256
- 呼吸功能不全 HP:0002093
- 严重的身材矮小 HP:0003510
- 短鼻 HP:0003196
- 方形髂骨 HP:0003177
- 锥形指 HP:0001182
常见 79–30%3
- 枕骨扁平 HP:0005469
- 肌张力减退 HP:0001252
- 反复呼吸道感染 HP:0002205
偶见 29–5%7
- 蓝巩膜 HP:0000592
- 拇指变宽 HP:0011304
- 肝脏肿大 HP:0002240
- 关节僵硬 HP:0001387
- 窄胸 HP:0000774
- 漏斗胸 HP:0000767
- 脾肿大 HP:0001744
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）