高位肩胛
Sprengel deformity
ORPHA:3181疾病
定义 英文原文（暂无中文）
A rare thoracic malformation characterized by an underdeveloped and abnormally high scapula due to its failure to descend to the regular position during embryonic development. The defect is in most cases unilateral and may be associated with other abnormalities, such as deformities of vertebral bodies, fused or absent ribs, or genitourinary anomalies, among others.
别名
高位肩胛
基本事实
- 发病年龄
- 产前、婴儿期、新生儿期
临床表型 6
极常见 99–80%5
- 肩部形态异常 HP:0003043
- 肩胛带肌肉异常 HP:0001435
- 短颈 HP:0000470
- 肩部肌肉发育不良 HP:0008952
- 斜颈 HP:0000473
偶见 29–5%1
- 腭裂 HP:0000175
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）