B4GALT7相关脊柱发育不良型Ehlers-Danlos综合征
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
ORPHA:75496疾病亚型
定义 英文原文（暂无中文）
A form of spondylodysplastic Ehlers-Danlos syndrome due to variants in B4GALT7 and characterized by short stature, variable degrees of muscle hypotonia, joint hypermobility, especially of the hands, and bowing of limbs. Additional features include the typical craniofacial gestalt (mid-face hypoplasia, round, flat face, proptosis and narrow mouth), hyperextensible skin that is soft, thin, translucent and doughy, delayed motor and/or cognitive development, characteristic radiographic findings (such as radio-ulnar synostosis, radial head subluxation or dislocation, metaphyseal flaring and osteopenia) and ocular abnormalities.
别名
EDS伴身材矮小和肢体畸形
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 |
|---|---|---|
| B4GALT7 | beta-1,4-galactosyltransferase 7 | Disease-causing germline mutation(s) in |
临床表型 37
极常见 99–80%21
- 主动脉瓣狭窄 HP:0001650
- 细长指(趾) HP:0001166
- 隐睾 HP:0000028
- 皮肤松弛症 HP:0000973
- 内眦赘皮 HP:0000286
- 屈曲挛缩 HP:0001371
- 牙龈炎 HP:0000230
- 全面发育迟缓 HP:0001263
- 生长延迟 HP:0001510
- 皮肤过度伸展 HP:0000974
- 肌张力减退 HP:0001252
- 脂肪营养不良 HP:0009125
- 长脚趾 HP:0010511
- 巨头畸形 HP:0000256
- 掌跖表皮旋纹 HP:0007469
- 扁平足 HP:0001763
- 早衰面容 HP:0005328
- 肺动脉瓣狭窄 HP:0001642
- 身材矮小 HP:0004322
- 睾丸扭转 HP:0100813
- 皮肤变薄 HP:0000963
常见 79–30%13
- 面部形状异常 HP:0001999
- 皮肤着色异常 HP:0001000
- 萎缩性瘢痕 HP:0001075
- 非典型皮肤瘢痕 HP:0000987
- 小口畸形 HP:0000160
- 骨质减少 HP:0000938
- 骨骼发育不良 HP:0002652
- 骨骼肌萎缩 HP:0003202
- 疏眉 HP:0045075
- 睫毛稀疏 HP:0000653
- 脱发 HP:0002209
- 内眦距过宽 HP:0000506
- 宽鼻梁 HP:0000431
偶见 29–5%3
- 乳牙异常 HP:0006481
- 关节过度活动 HP:0001382
- 脊柱后侧凸 HP:0002751
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）