What is Hypoplasia?

Hypoplasia is incomplete formation of a structure or organ in the body. It can be caused by genetic conditions or errors during fetal development, and depending on the structures involved, the complications can be variable. Treatments are available for some forms of hypoplasia and in other cases, treatment is focused on managing the associated problems and keeping the patient's comfort levels as high as possible.

A more severe condition, aplasia, is characterized by complete lack of formation of an organ or structure. In hypoplasia, either the development of the structure is halted, or it doesn't form properly. This may be diagnosed during fetal development, as sometimes malformations are visible on imaging studies, or shortly after birth. People with disorders of pubertal development can experience onset of hypoplasia later, as for example when girls fail to develop breasts in puberty.

In some cases, plastic surgery or prosthetic devices can be used to address cosmetic issues with hypoplasia, like small ears or missing extremities. In other cases, patients may need specialized medical care to address issues like malformed kidneys or lungs. In cases where organs are doubled, a patient may be able to survive on the healthy organ until later in life. Hypoplasia can also be associated with severe birth defects, like significant developmental disabilities in people missing parts of the brain.

Medical imaging studies and physical exams can be used to assess a patient with hypoplasia to learn more about the nature of the disorder and determine if any complications have developed. This information will be used in the formulation of a treatment plan appropriate to the needs of the patient. Treatments may include corrective surgery shortly after birth, administration of medications to compensate for issues like abnormal distribution of hormones in the body, or a wait and see approach to determine if the patient even needs medical interventions.

People with a history of hypoplasia who are thinking about having children can discuss the situation with their doctors. It they have genetic conditions, there is a risk of passing harmful genes on to children. If the abnormal development was the result of a random error during fetal development, it should be safe to have children, although it is always possible to be the carrier of an unrelated deleterious gene without being aware of it. Genetic testing can be used to look at common chromosomal sites of genetic disorders to see if a person is at risk of having children with genetic conditions.