进行性脊椎干骺端发育不全-身材矮小-第四跖骨短-智力障碍综合征
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
定义 英文原文（暂无中文）
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay and intellectual disability, progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, and dysmorphic craniofacial features (including microcephaly, hypertelorism, epicanthal folds, mild ptosis, strabismus, malar hypoplasia, short nose, depressed nasal bridge, full lips, small, low-set ears, and short neck). Craniosynostosis, generalized hypotonia, as well as asymmetry of the cerebral hemispheres and mild thinning of the corpus callosum on brain imaging have also been described.
基本事实
- 遗传方式
- 常染色体隐性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| RSPRY1 | ring finger and SPRY domain containing 1 | Disease-causing germline mutation(s) (loss of function) in |
临床表型 73
极常见 99–80%30
- 耳部异常 HP:0000598
- 髋骨形态异常 HP:0003272
- 膝关节异常 HP:0002815
- 自闭症行为 HP:0000729
- 短指（趾） HP:0001156
- 腕骨骨发育不全 HP:0001498
- 锥形骨骺 HP:0010579
- 颅缝早闭 HP:0001363
- 骨成熟延迟 HP:0002750
- 鼻梁塌陷 HP:0005280
- 内眦赘皮 HP:0000286
- 前额突出 HP:0002007
- 步态异常 HP:0001288
- 眼距过宽 HP:0000316
- 智力障碍 HP:0001249
- 脊柱后侧凸 HP:0002751
- 颧骨扁平 HP:0000272
- 运动发育迟缓 HP:0001270
- 骨质减少 HP:0000938
- 重叠趾 HP:0001845
- 扁平椎 HP:0000926
- 眼球突出 HP:0000520
- 股骨颈短 HP:0100864
- 第四跖骨短 HP:0004689
- 短颈 HP:0000470
- 短鼻 HP:0003196
- 身材矮小 HP:0004322
- 脊椎干骺端发育不良 HP:0002651
- 帐篷状上唇 HP:0010804
- 厚红唇缘 HP:0012471
常见 79–30%30
- 胸骨形态异常 HP:0000766
- 牙列异常 HP:0000164
- 椎体鸟喙样改变 HP:0004568
- 第五指屈指畸形 HP:0004209
- 髋内翻 HP:0002812
- 肘外翻 HP:0002967
- 不成比例的短躯干性矮小 HP:0003521
- 股骨远端弯曲 HP:0005096
- 腓骨干骺端不规则 HP:0030293
- 全身性肌张力减低 HP:0001290
- 膝外翻 HP:0002857
- 手关节背伸过度 HP:0005639
- 脊柱前凸过度 HP:0003307
- 鼻咽部腺样体肥大 HP:0040261
- 轻度智力障碍 HP:0001256
- 低位耳 HP:0000369
- 小头畸形 HP:0000252
- 骨盆狭窄 HP:0003275
- 扁平足 HP:0001763
- 跟骨突出 HP:0012428
- 股骨近端骨骺生理溶解 HP:0006461
- 摇椅足 HP:0001838
- 严重的表达性语言发育延迟 HP:0006863
- 长骨短 HP:0003026
- 掌骨短 HP:0010049
- 短掌 HP:0004279
- 长骨修长 HP:0003100
- 小骨骺 HP:0010585
- 胸腰脊柱侧弯 HP:0002944
- 胫骨干骺端不规则 HP:0030292
偶见 29–5%13
- 股骨头扁平 HP:0008812
- 胼胝体发育不良 HP:0002079
- 中度智力障碍 HP:0002342
- 伸肘受限 HP:0001377
- 二尖瓣反流 HP:0001653
- 颌部骨化性纤维瘤 HP:0030427
- 动脉导管未闭 HP:0001643
- 卵圆孔未闭 HP:0001655
- 高弓足 HP:0001761
- 枕大孔狭窄 HP:0002677
- 斜视 HP:0000486
- 扁平胸椎 HP:0004592
- 脚趾屈趾畸形 HP:0001863
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）