肢根型发育不良，Patterson-Lowry型
Rhizomelic dysplasia, Patterson-Lowry type
ORPHA:2831疾病
定义 英文原文（暂无中文）
Rhizomelic dysplasia, Patterson-Lowry type is a rare primary bone dysplasia characterized by short stature, severe rhizomelic shortening of the upper limbs associated with specific malformations of humeri (including marked widening and flattening of proximal metaphyses, medial flattening of the proximal epiphyses, and lateral bowing with medial cortical thickening of the proximal diaphyses), marked coxa vara with dysplastic femoral heads and brachymetacarpia.
基本事实
- 发病年龄
- 儿童期、婴儿期
- 患病率
- <1 / 1 000 000
临床表型 17
极常见 99–80%17
- 椎体形态异常 HP:0003312
- 短指（趾） HP:0001156
- 髋内翻 HP:0002812
- 肱骨头变形 HP:0005687
- 鼻嵴凹陷 HP:0000457
- 手指偏离 HP:0004097
- 内眦赘皮 HP:0000286
- 扁平脸 HP:0012368
- 膝外翻 HP:0002857
- 脊柱前凸过度 HP:0003307
- 大脸 HP:0100729
- 下颌前突 HP:0000303
- 肢体近端缩短 HP:0008905
- 肱骨短 HP:0005792
- 掌骨短 HP:0010049
- 短鼻 HP:0003196
- 宽鼻 HP:0000445
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）