Bardet- Biedl综合征 (Bardet- Biedl syndrome,BBS)系常染色体隐性遗传性疾病 ,主要临床表现有视网膜营养不良 ,先天性肥胖 ,多指趾畸形 ,生殖腺发育不全 ,智力发育迟缓 ,肾畸形等。约 35 %的患者伴有耳聋 (主要为传导性耳聋 )。分子遗传学研究显示本病具有遗传异质性 ,目前发现至少有 4个致病基因位点 ,即 BBS1、BBS2、BBS3、BBS4 ,不同基因位点突变临床表现基本无差别 ,致病机理不清。 Bardet-Biedl syndrome (BBS) is an autosomal recessive disease with the main clinical manifestations of retinal dystrophy, congenital obesity, multiple digit deformities, hypogonadism, mental retardation, kidney deformity, etc. . About 35% of patients with deafness (mainly conductive deafness). Molecular genetic studies have shown that the disease has genetic heterogeneity. At present, there are at least 4 sites of pathogenic genes, ie, BBS1, BBS2, BBS3 and BBS4. The clinical manifestations of mutations at different gene loci are basically the same, and the pathogenesis is not clear .