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Birth Defects

What are birth defects?

A birth defect is a problem that happens while a baby is developing in the mother's body. Most birth defects happen during the first 3 months of pregnancy. One out of every 33 babies in the United States is born with a birth defect.

A birth defect may affect how the body looks, works, or both. Some birth defects like cleft lip or neural tube defects are structural problems that can be easy to see. Others, like heart disease, are found using special tests. Birth defects can range from mild to severe. How a birth defect affects a child's life depends mostly on which organ or body part is involved and how severe the defect is.

What causes birth defects?

For some birth defects, researchers know the cause. But for many birth defects, the exact cause is unknown. Researchers think that most birth defects are caused by a complex mix of factors, which can include:

Who is at risk of having a baby with birth defects?

Certain factors may increase the chances of having a baby with a birth defect, such as:

How are birth defects diagnosed?

Health care providers can diagnose some birth defects during pregnancy, using prenatal testing. That's why it important to get regular prenatal care.

Other birth defects may not be found until after the baby is born. Providers may find them through newborn screening. Some defects, such as club foot, are obvious right away. Other times, the health care provider may not discover a defect until later in life, when the child has symptoms.

What are the treatments for birth defects?

Children with birth defects often need special care and treatments. Because the symptoms and problems caused by birth defects vary, the treatments also vary. Possible treatments may include surgery, medicines, assistive devices, physical therapy, and speech therapy.

Often, children with birth defects need a variety of services and may need to see several specialists. The primary health care provider can coordinate the special care that the child needs.

Can birth defects be prevented?

Not all birth defects can be prevented. But there are things you can do before and during pregnancy to increase your chance of having a healthy baby:

Centers for Disease Control and Prevention

Craniofacial Abnormalities

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body.

Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.

Walking Problems

What are walking problems?

If you are like most people, you walk thousands of steps each day. You walk to do your daily activities, get around, and exercise. It's something that you usually don't think about. But for those people who have a problem with walking, daily life can be more difficult.

Walking problems may cause you to:

What causes walking problems?

The pattern of how you walk is called your gait. Many different diseases and conditions can affect your gait and lead to problems with walking. They include:

How is the cause of a walking problem diagnosed?

To make a diagnosis, your health care provider will ask about your medical history and do a physical exam. This will include checking your bones and muscles and doing a neurological exam. In some cases, you may have other tests, such as lab or imaging tests.

What are the treatments for walking problems?

Treatment of walking problems depends on the cause. If the cause is a medical condition, treating that condition often improves your walking. Some common types of treatments for walking problems may include:

Congenital Heart Defects

What are congenital heart defects?

Congenital heart defects (CHDs) are problems with the structure of the heart. "Congenital" means that that the problems are present at birth. These defects happen when a baby's heart doesn't develop normally during pregnancy. Congenital heart defects are the most common type of birth defect.

Congenital heart defects can change the way the heart pumps blood. They may make blood flow too slowly, go the wrong way, or block it completely.

There are many types of congenital heart defects. They can happen in one or more parts of the heart. The most common types are:

Congenital heart defects can range from very mild problems that never need treatment to life-threatening problems at birth. The most serious congenital heart defects are called critical congenital heart disease. Babies with these defects usually need surgery in the first year of life. But the symptoms of milder heart defects may not show up until childhood or adulthood.

What causes congenital heart defects?

Researchers often don't know what causes congenital heart defects. They do know that changes in a baby's genes sometimes cause a heart defect. The changed genes may come from the parents, or the changes may happen during pregnancy.

Who is more likely to have a baby with a congenital heart defect?

Several things may increase the chance that your baby has a congenital heart defect, such as:

What are the symptoms of congenital heart defects?

Congenital heart defects don't cause pain. The signs and symptoms are different, depending on the type and number of defects and how serious they are.

Common signs and symptoms of congenital heart defects include:

What other problems do congenital heart defects cause?

Congenital heart defects don't always cause other problems. If they do, which problems you have would depend on the type and number of defects and how serious the defects are.

Children with congenital heart defects are more likely to:

People with congenital heart defects may develop other health conditions, including:

How are congenital heart defects diagnosed?What are the treatments for congenital heart defects?

Treatment depends on the type of congenital heart defect and how serious it is. Possible treatments include:

All children and adults who have congenital heart defects need regular follow-up care from a cardiologist (a doctor who specializes in heart diseases) throughout their life, even if their defect was repaired.

Some people may need several heart surgeries or catheterizations over the years. They may also need to take medicines to help their hearts work as well as possible.

NIH: National Heart, Lung, and Blood Institute

Bile Duct Diseases

Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes.

Different diseases can block the bile ducts and cause a problem with the flow of bile:

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Esophagus Disorders

The esophagus is the muscular tube that carries food and liquids from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot, or too cold. You may also notice it when something is wrong. You may feel pain or have trouble swallowing.

The most common problem with the esophagus is GERD (gastroesophageal reflux disease). With GERD, a muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus.

Other problems include heartburn, cancer, and eosinophilic esophagitis. Doctors may use various tests to make a diagnosis. These include imaging tests, an upper endoscopy, and a biopsy.

Treatment depends on the problem. Some problems get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Fistulas

A fistula is an abnormal connection between two parts inside of the body. Fistulas may develop between different organs, such as between the esophagus and the windpipe or the bowel and the vagina. They can also develop between two blood vessels, such as between an artery and a vein or between two arteries.

Some people are born with a fistula. Other common causes of fistulas include:

Treatment depends on the cause of the fistula, where it is, and how bad it is. Some fistulas will close on their own. In some cases, you may need antibiotics and/or surgery.

Uncommon Infant and Newborn Problems

It can be scary when your baby is sick, especially when it is not an everyday problem like a cold or a fever. You may not know whether the problem is serious or how to treat it. If you have concerns about your baby's health, call your health care provider right away.

Learning information about your baby's condition can help ease your worry. Do not be afraid to ask questions about your baby's care. By working together with your health care provider, you make sure that your baby gets the best care possible.

Ear Disorders

Your ear has three main parts: outer, middle and inner. You use all of them in hearing. Sound waves come in through your outer ear. They reach your middle ear, where they make your eardrum vibrate. The vibrations are transmitted through three tiny bones, called ossicles, in your middle ear. The vibrations travel to your inner ear, a snail-shaped organ. The inner ear makes the nerve impulses that are sent to the brain. Your brain recognizes them as sounds. The inner ear also controls balance.

A variety of conditions may affect your hearing or balance:

Some ear disorders can result in hearing disorders and deafness.

Facial Injuries and Disorders

Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, speech, breathing and your ability to swallow. Fractures (broken bones), especially in the bones of your nose, cheekbone and jaw, are common facial injuries.

Certain diseases also lead to facial disorders. For example, nerve diseases like trigeminal neuralgia or Bell's palsy sometimes cause facial pain, spasms and trouble with eye or facial movement. Birth defects can also affect the face. They can cause underdeveloped or unusually prominent facial features or a lack of facial expression. Cleft lip and palate are a common facial birth defect.

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