LERI氏过早骨化症
Leri pleonosteosis
ORPHA:2900疾病
定义 英文原文（暂无中文）
Leri pleonosteosis is characterized by broadening and deformity of the thumbs and great toes in a valgus position (a 'spade-shaped' appearance), flexion contracture of the interphalangeal joints, generalized limitation of joint mobility, short stature, and often mongoloid facies. Additional malformations include genu recurvatum, enlargement of the posterior neural arches of the cervical vertebrae, and thickening of the palmar and forearm fasciae. A few multigenerational families have been reported so far. The disease is inherited in an autosomal dominant manner.
基本事实
- 遗传方式
- 常染色体显性
- 发病年龄
- 婴儿期、新生儿期
- 患病率
- <1 / 1 000 000（Europe）
临床表型 23
极常见 99–80%15
- 椎体形态异常 HP:0003312
- 掌骨形态异常 HP:0005916
- 干骺端形态异常 HP:0000944
- 骨骺形态异常 HP:0005930
- 手指形态异常 HP:0001167
- 短指（趾） HP:0001156
- 拇指变宽 HP:0011304
- 手指弯曲 HP:0100490
- 步态异常 HP:0001288
- 膝反屈 HP:0002816
- 关节僵硬 HP:0001387
- 皮肤弹性缺乏 HP:0100679
- 严重的身材矮小 HP:0003510
- 皮肤增厚 HP:0001072
- 睑裂上斜 HP:0000582
常见 79–30%6
- 脊柱异常变直 HP:0100795
- 眼睑裂狭小 HP:0000581
- 肘外翻 HP:0002967
- 脊柱侧弯 HP:0002650
- 短睑裂 HP:0012745
- 皮下结节 HP:0001482
偶见 29–5%2
- 肘关节脱位 HP:0003042
- 斜视 HP:0000486
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）