Brachydactyly

A Brachydactyly Pedigree Reported by Lu You in Song Dynasty of China

我国宋朝陆游记载的短指畸形家系

Clinical features include microspherophakia , lens ectopia , glaucoma , brachydactyly , short status and so on .

临床表现为球形晶状体、晶状体脱位、青光眼、短指、身材矮小等。

In 1951 , Bell classified this disorder as brachydactyly type A1 ( BDA1 ), which is characterized by shortening or missing of the middle phalanges .

1951年，Bell将该遗传病归为A1型短指（趾）症，其主要特征是中间指（趾）节缩短或缺失。

Gene mutations in human gene can cause various diseases . The human autosomal dominant brachydactyly type B ( BDB ) and autosomal dominant polycystic kidney disease ( PKD ) are due to gene mutation on chromosome .

人类基因组上基因的突变可以引起各种各样疾病的发生，人的常染色体显性的B型短指和常染色体显性的多囊肾综合症就是由于染色体上的基因突变引起的。