指甲髌骨综合征是一种以指甲和髌骨发育异常或缺如为特征的综合征,由LMX1B基因突变导致的一种常染色体显性遗传性疾病,临床主要表现为指甲发育不全、髌骨缺失或发育不良、桡骨头和(或)肱骨小头发育不全(伴或不伴脱位)和髂骨角四联症,部分伴有眼部异常及肾脏受累。目前尚无特异性治疗。 Nail patella syndrome is a syndrome characterized by nails and patella dysplasia or absence characterized by an autosomal dominant genetic disorder caused by mutations in the LMX1B gene. The clinical manifestations are nail hypoplasia, patellar absent or development Poor, radial head and / or humeral head hypoplasia (with or without dislocation) and quadriplegia iliac quadratus, some accompanied by ocular abnormalities and kidney involvement. There is no specific treatment.