Larsen样骨异常增生症-矮小综合征
Larsen-like osseous dysplasia-short stature syndrome
ORPHA:2370疾病
定义 英文原文（暂无中文）
Larsen-like osseous dysplasia-short stature syndrome is a rare primary bone dysplasia characterized by a Larsen-like phenotype including multiple, congenital, large joint dislocations, craniofacial abnormalities (i.e. macrocephaly, flat occiput, prominent forehead, hypertelorism, low-set, malformed ears, flat nose, cleft palate), spinal abnormalities, cylindrical fingers, and talipes equinovarus, as well as growth retardation (resulting in short stature) and delayed bone age. Other reported clinical manifestations include severe developmental delay, hypotonia, clinodactyly, congenital heart defect and renal dysplasia.
基本事实
- 发病年龄
- 新生儿期
- 患病率
- <1 / 1 000 000
临床表型 21
极常见 99–80%11
- 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
- 骨盆带骨形态异常 HP:0002644
- 短指（趾） HP:0001156
- 第五指屈指畸形 HP:0004209
- 髋关节发育不良 HP:0001385
- 骨密度降低 HP:0004349
- 脊柱侧弯 HP:0002650
- 身材矮小 HP:0004322
- 骨骼发育不良 HP:0002652
常见 79–30%2
- 胎儿宫内发育迟缓 HP:0001511
- 眼球突出 HP:0000520
偶见 29–5%8
- 心脏间隔异常 HP:0001671
- 角膜混浊 HP:0007957
- 全面发育迟缓 HP:0001263
- 小口畸形 HP:0000160
- 后旋耳 HP:0000358
- 短鼻 HP:0003196
- 斜视 HP:0000486
- 下红唇薄 HP:0000233
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）