Common Medical Conditions
Individuals with Down syndrome may experience a range of medical conditions that require ongoing care and monitoring. While not every person with Down syndrome will have all or even most of these conditions, we have listed some of the most common.
Most Prevalent Conditions
Thyroid Disorders
Hypothyroidism (underactive thyroid) is especially common and can develop at birth or later in life.
What it is:
Hypothyroidism occurs when the thyroid gland doesn’t produce enough thyroid hormone, which is essential for metabolism, growth, and brain development.
Why it matters in Down syndrome:
People with Down syndrome are at significantly higher risk for hypothyroidism—both congenital (present at birth) and acquired (developing later in life). Because symptoms can be subtle or overlap with other features of Down syndrome, it’s important to screen regularly.
Congenital Heart Defects
Nearly half of all babies born with Down syndrome have some form of congenital heart defect (CHD), making early diagnosis and monitoring essential. These conditions can range from mild to severe and often require surgical intervention or lifelong management.
What is it:
A congenital heart defect (CHD) is a problem with the structure of the heart that is present at birth. These defects affect how blood flows through the heart and to the rest of the body. In individuals with Down syndrome, congenital heart defects are especially common and can vary from mild to complex.
Why it matters in Down syndrome:
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Impact on Overall Health: The heart's ability to pump oxygen-rich blood to the body is essential for growth, energy, and organ function. Untreated heart defects can lead to complications like fatigue, respiratory problems, and slower development.
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Increased Risk of Other Health Issues: Children with Down syndrome and heart defects are more prone to infections, particularly respiratory infections, which can further stress the heart. Addressing heart issues early can help reduce the risk of complications in other areas of health.
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Effect on Development: Untreated or severe heart defects can delay a child’s developmental milestones. Surgery or intervention can help improve physical health, which in turn supports cognitive and emotional development.
Alzeheimers
Individuals with Down syndrome are at an increased risk of developing Alzheimer's disease, often at a much younger age compared to the general population. Alzheimer’s disease is a progressive neurodegenerative condition that affects memory, thinking, and behavior.
Alzheimer’s leads to the gradual loss of brain cells, causing cognitive decline and memory loss. It primarily affects the hippocampus, the area of the brain responsible for memory. Early signs include memory loss, confusion, and changes in behavior, such as increased irritability or withdrawal from social activities. Over time, it can also affect motor skills and communication.
Why it matters in Down syndrome:
People with Down syndrome are at an increased risk of developing Alzheimer's disease because of the extra copy of chromosome 21. This chromosome contains the gene for amyloid precursor protein (APP), which contributes to the formation of amyloid plaques in the brain—one of the main hallmarks of Alzheimer's.
Other Common Conditions
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Many individuals experience frequent ear infections, fluid buildup, or structural issues in the ear canal.
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Hearing loss can impact language development and learning.
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Vision Problems
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Common issues include nearsightedness, crossed eyes (strabismus), and cataracts.
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Regular eye exams are important for early detection and correction.
People with Down syndrome are more likely than the general population to experience gastrointestinal (GI) issues due to differences in development and anatomy
Immune System Differences
Individuals with Down syndrome often have differences in their immune system that can make them more susceptible to infections and certain autoimmune conditions. These differences may include a reduced response to some vaccines, slower recovery from illness, and a higher risk for conditions like thyroid disease or celiac disease.
Obstructive Sleep Apnea
Children and adults with Down syndrome are at a higher risk of developing OSA due to physical characteristics such as smaller airways, enlarged tonsils, and a lower muscle tone. Symptoms may include loud snoring, frequent waking during the night, or trouble staying awake during the day. Treatment options often include lifestyle changes, the use of a CPAP machine (Continuous Positive Airway Pressure), or, in some cases, surgery to remove obstructions.
Orthopedic Issues
Orthopedic issues are common in individuals with Down syndrome due to the distinct physical characteristics associated with the condition, such as low muscle tone (hypotonia), loose joints (joint hypermobility), and ligamentous laxity. These factors can lead to an increased risk of musculoskeletal problems. Orthopedic issues in individuals with Down syndrome are typically managed through a combination of physical therapy, healthcare monitoring, and assistive devices.​