The causes of dwarfism are quite variable, although most are genetic. Dwarfism is not necessarily inherited, often arising from spontaneous mutations, and it can also be acquired in some circumstances. If someone has dwarfism, testing may be recommended to learn why, with the goal of identifying complications the individual may be at risk of developing. This will allow people to receive medical treatment appropriate to their needs.
Most commonly, dwarfism is caused by a genetic disorder. People may have mutations on genes responsible for skeletal development or regulation of hormones, leading to the development of a short stature. Other causes of dwarfism can include kidney disease and hormone imbalances, particularly those involving thyroid and pituitary hormones. In these cases, the dwarfism may be acquired or the result of an underlying genetic problem. In all instances, a child with dwarfism will fail to reach physical developmental milestones as expected, although the child usually experiences normal cognitive development.
Metabolic disorders can also lead to dwarfism. If people cannot absorb nutrients, this leads to dwarfism as a result of malnutrition. People with conditions like celiac disease can develop a short stature. Storage disorders are another of the causes of dwarfism, as the body relies on the storage of energy and nutrients for physical developments. People who experience extreme privation and malnutrition will also develop dwarfism, as their bodies don't receive nutritional support during the critical years of development.
Genetic testing, blood testing, and other medical testing can be used to learn more about why a child is not developing as expected. In a family with a history of dwarfism, there may be an increased risk that children will inherit genes known to cause dwarfism, and this can be a concern during medical evaluation of a child who is not growing as expected. In other cases, there may be no family history or obvious explanation, and sometimes extensive testing is required to understand the causes of dwarfism.
Some causes of dwarfism are treatable and while the developmental delays cannot be reversed, the treatment will reduce the risk of future complications like cancers and failure of body organs. In other cases, there are no treatments available for the cause and the focus for the patient's care is on providing the patient with assistive technology and other tools to navigate a world designed for much larger people. Parents with dwarfism can discuss their conditions with a genetic counselor if they are concerned about passing the condition on to their children.
