Skeletal dysplasia is the name of a broad group of genetic conditions that present in many different ways, including short stature (proportionate or disproportionate), atypical bone density (increased or decreased), fractures and structural bony anomalies (such as bony growths or bowing).

SHOX deficiency is a genetic condition caused by haploinsufficiency of the SHOX gene, resulting in short stature with marked shortening of the forearm and lower legs. Some individuals also develop an anomaly at the wrist called a Madelung deformity.

Noonan syndrome is typically inherited in an autosomal dominant pattern and can present pre- or postnatally with a range of clinical features, including raised nuchal translucency, congenital heart disease, early feeding difficulties, short stature and distinct facial features.

Children with Silver-Russell syndrome, a genomic imprinting disorder, typically present with intrauterine growth restriction, postnatal growth failure and a relatively large head circumference for body size. A prominent forehead and feeding difficulties are also characteristic. Some affected children have body asymmetry.

Most cases of short stature are due to inadequate food intake and/or acquired disease, but a minority will have a genetic cause.