What Does Hypoplasia Mean?
A deficiency in the complete development of organs
Medically reviewed by Rony Kampalath, MD
Hypoplasia is when organs or tissues have fewer than the average number of cells and cells that are underdeveloped. This condition can affect any part of the body. It is usually present at birth but may be diagnosed during pregnancy, at birth, during infancy, or even later. Some of the more common areas that it affects include the brain, breasts, eyes, heart, teeth, testicles, thymus, or uterus.
Learn about hypoplasia, its causes, types, symptoms, treatments, and more.
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Hypoplasia of Different Organs in Women and Men
Hypoplasia can affect any organ or body system in both men and women, but usually in different ways. For example, while both women and men can experience breast hypoplasia, it is more common among women due to the breast development that occurs in puberty. People with breast hypoplasia may experience more significant mammary gland development on one side compared to the other.
While roughly the same number of men and women get enamel hypoplasia, women with this condition tend to have more severe cases. Hypoplasia of the heart affects more men than women.
Explainer
In terms of hypoplasia, "men" refers to people born with a penis, while "women" describes those born with a uterus.
Other organs that can be affected by hypoplasia in both women and men include the following:
Brain: Cerebellar hypoplasia happens when the part of the brain responsible for regulating muscular movements and coordination is underdeveloped.
Eyes: Optic nerve hypoplasia involves partial or total vision loss due to an underdeveloped optic nerve.
Heart: Hypoplastic left heart syndrome is present at birth. It happens when the left side of the heart is underdeveloped, preventing normal blood flow.
Teeth: Enamel hypoplasia happens when the enamel of the teeth is not completely formed, leading to thin, discolored teeth that are more prone to damage.
Thymus: The thymus is part of the immune system and supports the body with white blood cells to protect against infections. Thymic hypoplasia happens when the thymus is underdeveloped, making the body more susceptible to infection.
Causes: Why Does Hypoplasia Occur?
The causes of hypoplasia can vary by type and by person. For example, cerebellar hypoplasia can be caused by genetics, among other things, such as exposure to toxins or viruses during pregnancy.
Most people with this condition are born with it. In addition to genetics, premature birth increases the risk. Because the cerebellum is a part of the brain that grows during the final stages of pregnancy, babies born early may experience cerebellar hypoplasia.
Sometimes, the cause is unknown.
Hypoplasia Types With Symptoms
There are many types of hypoplasia. Generally, they are characterized by the part of the body they affect. For example, a kind of hypoplasia that affects the heart is called cardiac hypoplasia. Hypoplastic left heart syndrome is one example. It affects over 1,000 babies each year in the United States.
Some types of hypoplasia are:
Cardiac hypoplasia: This type affects the heart and includes hypoplastic left heart syndrome and hypoplastic right heart syndrome. Symptoms include breathing challenges, increased heart rate, difficulty feeding as a baby, and endurance challenges during exercise among children and adults.
DiGeorge syndrome: This type is also called thymic hypoplasia. Symptoms include muscle weakness, increased infections and difficulty fighting infections, feeding challenges, learning delays, and heart defects.
Klinefelter's syndrome: This type affects the testicles and is also called testicular hypoplasia. Symptoms may include testicles that are small in size, bone or muscle weakness, decreased energy levels, and late puberty.
Optic nerve hypoplasia: This type affects the nerve that connects the eye to the brain. Symptoms include vision challenges and, sometimes, vision loss.
Turner's hypoplasia: This is also called enamel hypoplasia and affects the teeth. Symptoms include teeth that are thin, discolored, or sensitive or have grooves or indentations.
Hypoplasia Without Symptoms: How Do You Know?
Some people with hypoplasia do not experience symptoms. For example, it is possible to have 20/20 vision with optic nerve hypoplasia and to not notice any symptoms when the condition is mild.
Additionally, people with other types of hypoplasia that are mild will rearely experience symptoms. Hypoplasia may only be detected through testing, such as imaging as a baby or later in life. In cases of severe hypoplasia, there are typically signs or symptoms at birth or shortly after birth that call for testing that may lead to a diagnosis.
Treatment for Positive Hypoplasia Results
The treatment for hypoplasia depends on the type, severity, and person. For example,
Hypoplastic left heart syndrome treatment may include surgery, a feeding tube, and medications and may require lifelong monitoring and care.
Cerebellar hypoplasia treatment may include treatment for associated symptoms, such as medications for seizures.
Enamel hypoplasia treatment often involves restoring teeth by bonding resin to the enamel or dentine (the main supporting structure of the tooth).
It is important to consult a healthcare provider or medical care team for a treatment plan for hypoplasia. This may include a primary care practitioner, a pediatric specialist for babies and young children, and a specialist for the part of the body affected. For example, someone with hypoplastic left heart syndrome may be referred to a cardiologist.
Managing and Living With Congenital Hypoplasia
Like treatment options, managing and living with congenital hypoplasia depends on the type, severity, and individual. People with coordination challenges related to cerebellar hypoplasia may benefit from assistance devices such as wheelchairs.
In some cases, symptoms can be treated. Educational adaptations can support learning challenges, and therapies such as speech can benefit those experiencing developmental delays.
Summary
Any part of the body can be affected by hypoplasia in both males and females. It happens when an organ or tissue, such as the heart or enamel of teeth, is underdeveloped. Hypoplasia is most commonly present at birth but may not show noticeable symptoms. The condition can range from mild to severe, and treatment options depend on the type, severity, and person.
Treatment options include medications or surgery. A healthcare professional specializing in the area affected by hypoplasia can help with treatment options.
Read the original article on Verywell Health.
