Abstract: The etiology of short stature is complex.  There is a variety of genetic and environmental factors can lead to short stature. So far, there are more and more known genetic factors leading to short stature related syndromes. For children with bone deformity, multiple organs and systems involvement and special facial appearance, appropriate molecular genetic detection techniques should be selected according to clinical basic information to make a definite diagnosis, so as to provide basis for treatment and genetic counseling.

Key words: short stature, syndrome, chromosome, gene