Dwarfism can be caused by genetic disorders, hormonal imbalances, metabolic disorders, and malnutrition. Testing can help identify the cause and potential complications. Treatment may reduce the risk of future complications, but in some cases, there is no cure. Genetic counseling is recommended for parents with dwarfism.
The causes of dwarfism are quite variable, although most are genetic. Dwarfism is not necessarily inherited, often resulting from spontaneous mutations, and can also be acquired in some circumstances. If someone has dwarfism, tests to understand why may be recommended, with the aim of identifying complications that the individual may be at risk of developing. This will enable people to receive medical care tailored to their needs.
Most commonly, dwarfism is caused by a genetic disorder. People can have mutations in genes responsible for skeletal development or hormone regulation, leading to the development of short stature. Other causes of dwarfism can include kidney disease and hormonal imbalances, particularly those involving the thyroid and pituitary hormones. In these cases, dwarfism may be acquired or the result of an underlying genetic problem. In all cases, 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 due to malnutrition. People with conditions such as celiac disease can develop short stature. Storage disorders are another cause of dwarfism, as the body relies on storing energy and nutrients for physical development. People who experience extreme deprivation and malnutrition will also develop dwarfism, as their bodies receive no nutritional support during the critical developmental years.
Genetic testing, blood tests, and other medical tests can be used to learn more about why a baby isn’t developing as expected. In a family with a history of dwarfism, there may be an increased risk of children inheriting genes known to cause dwarfism and this can be a concern when medically evaluating a child who is not growing as expected. In other cases, there may not be a family history or obvious explanation, and sometimes extensive testing is needed to understand the causes of dwarfism.
Some causes of dwarfism are treatable, and while developmental delays cannot be reversed, treatment will reduce the risk of future complications such as tumors and organ failure. In other cases, there is no cure for the cause, and the goal of patient care is to provide the patient with assistive technology and other tools to navigate a world designed for much older people. Parents with dwarfism can discuss their conditions with a genetic counselor if they are concerned about passing the condition on to their children.
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