小头骨发育不良症，Saul-Wilson型
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
ORPHA:85172疾病
定义 英文原文（暂无中文）
Microcephalic osteodysplastic dysplasia, Saul-Wilson type is a skeletal dysplasia characterized by a distinct facial phenotype, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly. It has been described in four patients. Facial features include frontal bossing with a depression over the metopic suture, a narrow nasal root with a beaked nose, and midfacial hypoplasia with prominent eyes. Characteristic radiographic findings are observed (irregularities of the vertebral bodies, hypoplasia of the odontoid process, short phalanges, coning several epiphyses etc.).
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 |
|---|---|---|
| COG4 | component of oligomeric golgi complex 4 | Disease-causing germline mutation(s) in |
临床表型 16
极常见 99–80%16
- 白内障 HP:0000518
- 指骨锥形骨骺 HP:0010230
- 凸鼻嵴 HP:0000444
- 前额突出 HP:0002007
- 齿状突发育不全 HP:0003311
- 椎体不规则 HP:0004582
- 颧骨扁平 HP:0000272
- 小头畸形 HP:0000252
- 鼻梁狭窄 HP:0000446
- 鼻尖悬垂 HP:0011833
- 扁平椎 HP:0000926
- 眼球突出 HP:0000520
- 短掌 HP:0004279
- 身材矮小 HP:0004322
- 小手 HP:0200055
- 马蹄内翻足 HP:0001762
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）