赖氨酰羟化酶1缺乏所致脊柱后侧凸型Ehlers-Danlos syndrome
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
定义 英文原文（暂无中文）
A rare subtype of kyphoscoliotic Ehlers-Danlos syndrome characterized by congenital muscle hypotonia, congenital or early-onset kyphoscoliosis (progressive or non-progressive), and generalized joint hypermobility with dislocations/subluxations (in particular of the shoulders, hips, and knees). Additional common features are skin hyperextensibility, easy bruising of the skin, rupture/aneurysm of a medium-sized artery, osteopenia/osteoporosis, blue sclerae, umbilical or inguinal hernia, chest deformity, marfanoid habitus, talipes equinovarus, and refractive errors. Subtype-specific manifestations include skin fragility, atrophic scarring, scleral/ocular fragility/rupture, microcornea, and facial dysmorphology (like low‐set ears, epicanthal folds, down‐slanting palpebral fissures, high palate). Molecular testing is obligatory to confirm the diagnosis.
别名
赖氨酸羟化酶缺乏EDS
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
- 1-9 / 100 000
相关基因 1
| 基因 | 名称 | 关联类型 |
|---|---|---|
| PLOD1 | procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 | Disease-causing germline mutation(s) in |
临床表型 68
极常见 99–80%10
- 循环酶浓度或活性异常 HP:0012379
- 瘀斑易感性 HP:0000978
- 敏感性皮肤 HP:0001030
- 皮肤过度伸展 HP:0000974
- 肌张力减退 HP:0001252
- 关节过度活动 HP:0001382
- 新生儿肌张力减退 HP:0001319
- 骨质减少 HP:0000938
- 骨质疏松 HP:0000939
- 胸椎后侧凸 HP:0005659
常见 79–30%11
- 萎缩性瘢痕 HP:0001075
- 不成比例的高身材 HP:0001519
- 内眦赘皮 HP:0000286
- 全身关节过度活动 HP:0002761
- 髋关节脱位 HP:0002827
- 关节脱位 HP:0001373
- 关节半脱位 HP:0032153
- 小角膜 HP:0000482
- 肌无力 HP:0001324
- 马蹄内翻足 HP:0001762
- 胸部脊柱侧弯 HP:0002943
偶见 29–5%33
- 异常出血 HP:0001892
- 主动脉瘤 HP:0004942
- 主动脉夹层 HP:0002647
- 动脉夹层 HP:0005294
- 动脉破裂 HP:0025019
- 蓝巩膜 HP:0000592
- 先天性双侧髋关节脱位 HP:0008780
- 先天性脊柱后侧凸畸形 HP:0008453
- 肌量减少 HP:0003199
- 粗大运动发育迟缓 HP:0002194
- 血管扩张 HP:0002617
- 远端关节过度活动 HP:0020152
- EMG:肌病样异常 HP:0003458
- 泛发性肌无力 HP:0003324
- 青光眼 HP:0000501
- 髋关节半脱位 HP:0030043
- 远视 HP:0000540
- 振动觉异常 HP:0002495
- 腹股沟疝 HP:0000023
- 四肢肌肉无力 HP:0003690
- 二尖瓣脱垂 HP:0001634
- 肌纤维萎缩 HP:0100295
- 近视 HP:0000545
- 髌骨脱位 HP:0002999
- 漏斗胸 HP:0000767
- 伤口愈合不良 HP:0001058
- 腱反射减低 HP:0001315
- 视网膜脱离 HP:0000541
- 巩膜破裂 HP:0025513
- 肩关节半脱位 HP:0003835
- 连眉 HP:0000664
- 脐疝 HP:0001537
- 萎缩性疤痕增宽 HP:0031158
罕见 <4–1%14
- 耳廓形态异常 HP:0000377
- 静脉形态异常 HP:0002624
- 臂神经丛异常 HP:0045052
- 充血性心力衰竭 HP:0001635
- 肘屈曲挛缩 HP:0002987
- 腭高而窄 HP:0002705
- 踵趾步态 HP:0031629
- 轴索性周围神经病 HP:0003477
- 扁平足 HP:0001763
- 反复肺炎 HP:0006532
- 限制性通气功能障碍 HP:0002091
- 斜视 HP:0000486
- 三角头畸形 HP:0000243
- 垂腕 HP:0031189
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）