Hypoplasia is incomplete formation of a structure or organ, caused by genetic conditions or fetal development errors. Treatments vary depending on complications, and can include plastic surgery or prosthetic devices. Aplasia is a more serious condition characterized by the complete lack of formation of an organ or structure. Medical imaging and physical exams can be used to evaluate a patient with hypoplasia. Genetic testing can be used to determine the risk of passing harmful genes to children.
Hypoplasia is the 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, 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 serious condition, aplasia, is characterized by the complete lack of formation of an organ or structure. In hypoplasia, structure development is halted or does not form properly. This can be diagnosed during fetal development, as the malformations are sometimes visible on imaging studies or soon after birth. People with pubertal developmental disorders may experience later onset of hypoplasia, such as when girls fail to develop breasts during puberty.
In some cases, plastic surgery or prosthetic devices can be used to address cosmetic issues with hypoplasia, such as small ears or missing extremities. In other cases, patients may need specialized medical attention to address problems such as malformed kidneys or lungs. In cases where organs have 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, such as significant developmental disabilities in people with missing parts of the brain.
Medical imaging studies and physical exams can be used to evaluate a patient with hypoplasia to learn more about the nature of the disorder and determine if complications have developed. This information will be used in formulating a treatment plan appropriate to the patient’s needs. Treatments may include corrective surgery soon after birth, the administration of medications to compensate for problems such as abnormal distribution of hormones in the body, or a wait-and-see approach to determine if the patient needs any medical interventions.
People with a history of hypoplasia who are considering having children can discuss the situation with their doctors. If they have genetic conditions, there is a risk of passing harmful genes 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 carry 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 disorders.
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