hypoplasia

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.

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:

• Genetics. One or more genes might have a change or mutation that prevents them from working properly. For example, this happens in Fragile X syndrome. With some defects, a gene or part of the gene might be missing.
• Chromosomal problems. In some cases, a chromosome or part of a chromosome might be missing. This is what happens in Turner syndrome. In other cases, such as with Down syndrome, the child has an extra chromosome.
• Exposures to medicines, chemicals, or other toxic substances. For example, alcohol misuse can cause fetal alcohol spectrum disorders.
• Infections during pregnancy. For example, infection with Zika virus during pregnancy can cause a serious defect in the brain.
• Lack of certain nutrients. Not getting enough folic acid before and during pregnancy is a key factor in causing neural tube defects.

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

• Smoking, drinking alcohol, or taking certain "street" drugs during pregnancy
• Having certain medical conditions, such as obesity or uncontrolled diabetes, before and during pregnancy
• Taking certain medicines
• Having someone in your family with a birth defect. To learn more about your risk of having a baby with a birth defect, you can talk with a genetic counselor,
• Being an older mother, typically over the age of 34 years

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.

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.

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:

• Start prenatal care as soon as you think you might be pregnant, and see your health care provider regularly during pregnancy
• Get 400 micrograms (mcg) of folic acid every day. If possible, you should start taking it at least one month before you get pregnant.
• Don't drink alcohol, smoke, or use "street" drugs
• Talk to your health care provider about any medicines you are taking or thinking about taking. This includes prescription and over-the-counter medicines, as well as dietary or herbal supplements.
• Learn how to prevent infections during pregnancy
• If you have any medical conditions, try to get them under control before you get pregnant

Centers for Disease Control and Prevention

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.

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:

• Walk with your head and neck bent over
• Drag, drop, or shuffle your feet
• Have irregular, jerky movements when walking
• Take smaller steps
• Waddle
• Walk more slowly or stiffly

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:

• Abnormal development of the muscles or bones of your legs or feet
• Arthritis of the hips, knees, ankles, or feet
• Cerebellar disorders, which are disorders of the area of the brain that controls coordination and balance
• Foot problems, including corns and calluses, sores, and warts
• Infections
• Injuries, such as fractures (broken bones), sprains, and tendinitis
• Movement disorders, such as Parkinson's disease
• Neurologic diseases, including multiple sclerosis and peripheral nerve disorders
• Vision problems

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.

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:

• Medicines
• Mobility aids such as walkers and canes
• Physical therapy
• Special shoes, insoles, splints, or braces
• Surgery

Your bones help you move, give you shape and support your body. They are living tissues that rebuild constantly throughout your life. During childhood and your teens, your body adds new bone faster than it removes old bone. After about age 20, you can lose bone faster than you make bone. To have strong bones when you are young, and to prevent bone loss when you are older, you need to get enough calcium, vitamin D, and exercise. You should also avoid smoking and drinking too much alcohol.

Bone diseases can make bones easy to break. Different kinds of bone problems include:

• Low bone density and osteoporosis, which make your bones weak and more likely to break
• Osteogenesis imperfecta makes your bones brittle
• Paget's disease of bone makes them weak
• Bones can also develop cancer and infections
• Other bone diseases, which are caused by poor nutrition, genetics, or problems with the rate of bone growth or rebuilding

NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases

When you play the piano or hit a tennis ball you are activating the cerebellum. The cerebellum is the area of the brain that controls coordination and balance. Problems with the cerebellum include:

• Cancer
• Genetic disorders
• Ataxias - failure of muscle control in the arms and legs that result in movement disorders
• Degeneration - disorders caused by brain cells decreasing in size or wasting away

Treatment of cerebellar disorders depends on the cause. In some cases, there is no cure but treatment may help with symptoms.

NIH: National Institute of Neurological Disorders and Stroke

Your adrenal glands are two small organs that sit on top of each kidney. The adrenal glands make different types of hormones you need to stay alive and healthy. Hormones are chemicals that travel in your bloodstream and control how different parts of your body work.

The adrenal glands make the hormones cortisol, aldosterone, adrenaline, and noradrenaline. They also make hormones that your body uses to make sex hormones (estrogen and testosterone). All of these hormones do many important jobs, including:

• Turning food into energy and managing blood sugar levels
• Balancing salt and water
• Keeping blood pressure normal
• Responding to illness and stress (your "fight or flight" response)
• Timing when and how fast a child develops sexually
• Supporting pregnancy

When you have an adrenal gland disorder, your body makes too much or too little of one or more hormones. The symptoms depend on the type of problem you have and how much it affects the hormone levels in your body.

There are many types of adrenal gland disorders, including:

• Addison's Disease - a condition in which the adrenal glands don't make enough cortisol
• Cushing's Syndrome - a condition caused by too much cortisol in the body, often from taking steroid medicines for a long time
• Aldosterone-producing adenoma - a benign tumor (not cancer) that makes too much aldosterone and may cause serious high blood pressure
• Hereditary paraganglioma-pheochromocytoma - an inherited condition causing different types of tumors that make adrenaline and other hormones. Some tumors may become cancerous.
• Adrenal gland cancer - cancerous tumors, including adrenocortical carcinoma and neuroblastoma
• Congenital Adrenal Hyperplasia (CAH) - a group of inherited disorders in which the adrenal glands don't make enough cortisol. The most common type is 21-hydroxylase deficiency (also called CAH1). In the United States, newborn babies get a blood test to see if they have CAH. People born with CAH may not have symptoms until childhood or later in life.

The cause of adrenal gland disorders depends on the type of disorder you have. Causes can include:

• Medicines such as steroids
• A problem in another gland, such as the pituitary gland. The pituitary gland releases hormones that affect how the adrenal glands work.
• Changes in genes (mutations). These changes can cause the adrenal glands to make too much or too little of one or more hormones.
• Infections

In many cases the cause of the problem isn't clear.

Health care providers use different tests to check for adrenal disorders depending on your symptoms and health history. For example, you may have tests of your blood, urine (pee), or saliva (spit). These tests check your hormone levels. Your provider may order x-rays, CT scans, or MRI scans to look for tumors.

Different types of adrenal gland disorders have different treatments. They include medicines and surgery. Radiation therapy is sometimes a treatment for tumors. There are treatments to cure certain adrenal gland disorders. For other disorders, treatments can manage your symptoms.

NIH: National Institute of Child Health and Human Development

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.

Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages, before you even know you are pregnant. Drinking during pregnancy can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Children who are born with FASD can have a mix of problems, such as medical, behavioral, educational, and social problems. The kinds of problems they have depend on which type of FASD they have. The problems could include :

• Abnormal facial features, such as a smooth ridge between the nose and upper lip
• Small head size
• Shorter-than-average height
• Low body weight
• Poor coordination
• Hyperactive behavior
• Difficulty with attention and memory
• Learning disabilities and difficulty in school
• Speech and language delays
• Intellectual disability or low IQ
• Poor reasoning and judgment skills
• Sleep and sucking problems as a baby
• Vision or hearing problems
• Problems with the heart, kidneys, or bones

Fetal alcohol syndrome (FAS) is the most serious type of FASD. People with fetal alcohol syndrome have facial abnormalities, including wide-set and narrow eyes, growth problems and nervous system abnormalities.

Diagnosing FASD can be hard because there is no medical test, like a blood test, for it. The health care provider will make a diagnosis by looking at the child's signs and symptoms and asking whether the mother drank alcohol during pregnancy.

FASDs last a lifetime. There is no cure for FASDs, but treatments can help. These include medicines to help with some symptoms, medical care for health problems, behavior and education therapy, and parent training. A good treatment plan is specific to the child's problems. It should include close monitoring, follow-ups, and changes when needed.

Certain "protective factors" can help reduce the effects of FASDs and help people who have them reach their full potential. They include:

• Diagnosis before 6 years of age
• Loving, nurturing, and stable home environment during the school years
• Absence of violence around them
• Involvement in special education and social services

There is no known safe amount of alcohol during pregnancy. To prevent FASDs, you should not drink alcohol while you are pregnant, or when you might get pregnant.

Centers for Disease Control and Prevention

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

• Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
• Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
• Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Not all medicines are safe to take when you are pregnant. Some medicines can harm your baby. That includes over-the-counter or prescription drugs, herbs, and supplements.

Always speak with your health care provider before you start or stop any medicine. Not using medicine that you need may be more harmful to you and your baby than using the medicine. For example, many pregnant women take prescription medicines for health problems like diabetes, asthma, seizures, and heartburn. The decision about whether or not to take a medicine depends on the risks and benefits. You and your health care provider should make this choice together.

Pregnant women should not take regular vitamins. They may have too much or too little of the vitamins that you need. There are special vitamins for pregnant women. It is important to take 0.4 mg of folic acid every day before you become pregnant through the first part of your pregnancy. Folic acid helps to prevent birth defects of the baby's brain or spine.

Food and Drug Administration