Congenital hypoplasia is a genetic condition where a structure in the body does not fully develop, leading to medical problems. It can be passed on to children, and treatment options include hormone replacement therapy and surgery. Genetic counseling is recommended for parents.
Congenital hypoplasia is undergrowth of tissue that leads to medical problems, depending on the location and function of the tissue. Patients with this condition may have underdeveloped organs, muscles, and other structures in their bodies. In some cases, the complications are so severe that the patient may die in infancy or childhood, especially if the condition is not recognized in time. Other patients may have manageable forms that can be treated using techniques such as hormone replacement therapy.
In a patient with congenital hypoplasia, a structure in the body does not fully develop due to a genetic error. This could be a spontaneous mutation in one of a child’s parents, leading to the inheritance of a faulty gene. It can also be a genetic condition that can come with a family history for one or both parents. It may be important to find out what caused a case of congenital hypoplasia, as this may be necessary information for planning future pregnancies.
Several structures may be involved. A child may have an incompletely formed adrenal gland, for example, or a malformed organ such as a kidney. Some patients have smaller than normal urinary tracts or underdeveloped muscles in the arms and legs. Some cases may also be accompanied by other medical conditions such as cleft lip and palate or imperforate anus.
One option may be to replace the function of underdeveloped organs. Patients with endocrine imbalances, for example, can take hormonal supplements to address the problem. Other patients may need surgery to correct birth defects or may require physical therapy to develop as much strength and dexterity as possible in an affected limb. Patients with congenital hypoplasia may need a thorough medical evaluation to check for hidden complications, determine the nature of their needs, and provide appropriate treatment.
Patients can pass this condition on to their children. Depending on the nature of the hypoplasia, the risks of passing it on can be variable. Parents concerned about this issue may wish to meet with a genetic counselor to discuss the risks and their options. Genetics is a rapidly improving field, and as a result, options for treating genetic conditions can change over the years. Before making a decision based on information that may be out of date, couples may find it helpful to attend a genetic counseling session to ensure they have all the facts.
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