The skeletal dysplasias are disorders characterized by developmental abnormalities of the skeleton. They form a large heterogeneous group and range in severity from precocious osteoarthropathy to perinatal lethality. Disproportionate short stature is the most frequent clinical complication but is not uniformly present. There are more than 400 recognized forms of skeletal dysplasia, which can make determining a specific diagnosis difficult. This process is further complicated by the rarity of the individual conditions. The spectrum of skeletal dysplasias ranges from perinatal lethal to individuals with normal stature and survival but early onset osteoarthrosis. The approach to diagnosis varies between the lethal/semilethal disorders and those compatible with life; thus, they are reviewed separately. Most lethal skeletal dysplasias (and many nonlethal ones) can be identified on prenatal ultrasound. In addition, there are 80% of the lethal dysplasias that are detected on prenatal ultrasound, and the nonlethal or variably lethal skeletal dysplasias are increasingly detected. The most common findings prompting suspicion of a skeletal dysplasia are short limbs for gestational age or polyhydramnios. Once a skeletal dysplasia is suspected, the patient is referred to a tertiary care center for detailed anatomic screening.