What Is Congenital Hypoplasia?

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  • Written By: Mary McMahon
  • Edited By: Nancy Fann-Im
  • Last Modified Date: 02 October 2016
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Congenital hypoplasia is an undergrowth of tissue that leads to medical problems, depending on the tissue's location and function. 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 like hormone replacement therapy.

In a patient with congenital hypoplasia, a structure in the body does not fully develop as a result of a genetic error. This could be a spontaneous mutation in one of a child's parents, leading to the inheritance of a defective gene. It can also be a genetic condition that may 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 could be necessary information to have for the planning of future pregnancies.

A variety of structures can be involved. A child may have an incompletely formed adrenal gland, for instance, or a malformed organ like a kidney. Some patients have urinary tracts that are smaller than usual, or underdeveloped muscles in their arms and legs. Some cases may also be accompanied by other medical conditions like cleft lip and palate or imperforate anus.


One option can be to replace the function of the underdeveloped organs. Patients with endocrine imbalances, for example, can take hormone supplements to address the issue. Other patients may need surgery to correct birth defects, or could 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 with concerns about this issue may want to meet with a genetic counselor to discuss risks and their options. Genetics is a rapidly improving field, and as a result, options for treatment of genetic conditions may change over the years. Before making a decision on the basis of information that may be outdated, couples might find it helpful to attend a genetic counseling session to make sure they have all the facts.


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