肢端骨发育不全，Weyers 型
基因病名称(英)
Acrofacial dysostosis, Weyers type
别名(英)
Acrodental dysostosis of Weyers,Curry-Hall syndrome,Weyers acrofacial dysostosis
别名
Weyers 肢端骨发育不全、Curry-Hall 综合征、Weyers 肢端面骨发育不全
统计
reviewed:2; annotated:0
交叉引用
193530,C0457013,D004413
描述(英)
An autosomal dominant condition characterized by dysplastic nails, postaxial polydactyly, dental anomalies, short limbs, short stature and normal intelligence. The phenotype is milder than Ellis-van Creveld syndrome.
描述
一种常染色体显性遗传疾病，其特征是指甲发育不良、轴后多指畸形、牙齿异常、四肢短小、身材矮小和智力正常。该表型比 Ellis-van Creveld 综合征轻。