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Baby Born Deformed: What are the Main Types of Birth Defects?

by | Newborn

Birth defects are abnormal conditions that start in the womb of women when the baby is developing. Approximately 3% to 6% of infants are born with a birth defect worldwide. Defects and abnormalities affect infants regardless of birthplace, ethnicity, or race.

It is one of the main causes of death of infants or young children globally. These common, costly, and critical conditions affect functional and structural development. So, more and more people are concerned about keeping a check and preventing such abnormalities.

If you are willing to learn about birth defects and how a woman can improve their possible chances of having a healthy baby, you are at the right place. This article will target every aspect of birth problems to have a healthy baby.

baby born deformed

What are Birth Defects?

A birth defect is an abnormal fetal condition or newborn infant. It is a structural change that occurs at birth that can potentially affect any part of the body. Birth defects can cause issues in a child’s overall well-being, such as how the body functions. However, the defects caused by unknown reason can range from mild to severely serious conditions.

Visibly apparent: A huge birthmark and a missing limb.

Chemical imbalance: Chemical imbalance can result in developmental delay.

Internal defects: It can include undeveloped organs such as deformed kidneys and ventricular septal defects.

The health care provider will not be able to detect all birth effects. Some defects, for instance, scoliosis, sometimes do not appear until the infant is a few months old. Moreover, a deformed kidney might take many years to be diagnosed.

What Causes a Child to be Born Deformed?

The exact and common reason for birth defects is still unknown. However, there are some factors and conditions that increase the possibility of you having an infant with birth defects. Following these risk factors does not imply that your baby will definitely be affected, but indeed, they contribute to raising chances of causes birth defects.

Here are some common factors playing a major part in the deformed development of the baby’s body.

Genetic and Gene Defects:

The parents may pass on a genetic disease to their baby that may run from generation to generation. It happens when a gene becomes damaged due to mutation. Sometimes, a gene might go missing and causes birth defects. Genes are part of your body’s cell that holds information and patterns of the body’s growth. Such abnormalities happen when the baby is in the womb and are not curable. The genetic birth defect is the reason for the family healthcare history of one or both sides.

Environmental Factors:

Your environment is all you come in contact with that affects your everyday life. It includes your location of the house, the kind of food you eat, where you work, and your hobbies as well. Something in your environment, such as smoke and chemicals, can harm your baby during pregnancy.

Health Problems:

Health problem such as diabetes can manifold the risk of your baby having birth defects. Diabetes is a health condition commonly found in older people. It happens when our body has too high a glucose level. Diabetes can harm the organs in the body, such as nerves, eyes, kidneys, blood vessels, and above all, baby development.

Medication During or Before Pregnancy:

Consuming certain drugs such as isotretinoin increases your baby’s birth defect risk. It is an effective medicine used to treat acne.

Lifestyle or Infection:

During pregnancy, you must be extra careful and switch to a simpler life. Spend a life that is free of cigarettes or alcohol. These things can higher risk of a deformed baby and cause health problem. Such factors can even lead to infections during pregnancy, making it obvious to have a baby born with a birth defect. For instance, if you got a Zika infection, the chances of your baby having microcephaly increase many times.


Age is a crucial factor in deciding the well-being of infants at the time of birth.

What is it called when a Baby is Born Deformed?

When the baby is born deformed, it is known as congenital deformity. It is a condition in which the normal size and shape of the body change by the condition that the baby is born with.

How Common are Deformed Babies?

Due to rapidly changing lifestyles and increasing pollution, the rate of birth defects is also increasing. Birth defects have become common to the extent that 2% to 3% of infants have it. However, the ratio boosts up to 5% by initial age, as all the defects cannot be diagnosed at the time of birth.

What are the 5 Types of Birth Defects?

As the population is growing, the number of birth defects is also increasing. Here are five major types of birth defects, depending on the part of the body affected.

  • Mouth: Birth deformity related to the mouth is one of the most common types experienced by around, 7000 children annually. The Cleft palate and lips are the most common example.
  • Heart: Heart defects are another common type of birth defect challenging the life of 6500 babies yearly, according to CDC statistics. Atrial Septal defects and Atrioventricular septal defects are common examples of heart defects.
  • Stomach or intestinal defects: It is a comparatively rare kind of birth defect, but still is dangerous and requires treatment immediately. According to a CDC survey, 2883 babies are affected by intestinal and stomach birth defects every year. Diaphragmatic hernia, in which organs grow and enter the chest cavity, and Exomphalos, in which organs grow through the navel, are the most common examples.
  • Musculoskeletal defects: Musculoskeletal deformity is the term referring to structural deformity. When the body abnormally forms during gestation or develops delays due to trauma or other conditions, it is referred to as musculoskeletal birth defects. Approximately, 5800 babies per year experience it. However, the major examples of this condition are Femoral Torsion and congenital knee dislocation.
  • Genetic defect: It is inevitable to avoid genetic defects. These abnormalities come down from generation to generation. Down syndrome, Klinefelter syndrome, and Fragile X syndrome are typical glimpses of genetic defects.

What are the 10 Most Common Birth Defects?

There are thousands of birth defects found in newborns. The most common birth defects such as heart, down syndrome, cleft lips, and missing limbs. However, here we have listed the 10 most commonly occurring birth defects. Let’s explore!

Congenital Heart Defects:

It is a life-threatening birth defect found in every 1 of 100 infants. A heart defect is a vast term to describe any structural heart issue that affects organ functioning. Some defects impact how the blood flows due to holes in the heart, whereas other defects are more specific to the parts of the heart, for instance, the aorta.

Ventricular Septal Defect:

This defect is deadly as it is directly associated with the heart. Ventricular Septal defect occurs in 1 in every 240 births. It is a common heart defect known as a hole in the heart. This occurs when the wall between the left and right ventricle does not develop properly, leaving an opening in two. It is dangerous yet treatable. Some VSDs get smaller or close on their own, while the larger holes require surgery.


This is one of the most common birth defects in male babies, which occurs in 1 in every 200 births. This defect happens when the urethra opening is formed inside or on the underside of the penis instead of on the tip. This causes difficulty in urination and often requires surgery for a normal and healthy life.

Down Syndrome:

It is the most common type of chromosomal abnormality, a birth defect. Down syndrome, also known as Trisomy 21, occurs in every 1 child out of 1050. It happens when an extra copy of chromosome 21 is present in the gene. This unnecessary addition of chromosomes can cause physical deformity and developmental challenges.


As the name indicates, Clubfoot is a foot abnormality in which the foot turns inward. It occurs in every 1 of 600 infants. In utero, the tendons connecting muscles to bone are shorter, causing feet to turn inwards. It can be treated by regular stretching and physical therapy. However, Clubfoot may require bracing and eventually surgery in extreme cases to adjust joints, ligaments, and tendons of the foot.

baby born deformed

Cleft Lip with Cleft Palate:

It is an orofacial cleft birth defect that every 1 out of 1560 children experiences. This birth defect happens when both lips do not join wholly. Moreover, the upper part of the mouth does not come in contact completely. Cleft lip with cleft palate requires surgery during the first 12 to 18 months of your child’s life to cure completely. 

baby born deformed

Pulmonary Valve Atresia and Stenosis:

It is another heart-related birth defect found in 1 out of 1053 births. Pulmonary Valve Atresia and stenosis are heart defects present at birth in which either the valve that promotes blood flow from the right ventricle to the pulmonary artery is not formed or is too thin. It can potentially block the blood from reaching the lungs or constrict the level of blood that can be reached into the lungs.

Limb Defects:

It is a comparatively rare defect, yet the second most common type of musculoskeletal defect behind a clubfoot. It is associated with the abnormality of the arm and legs. The treatment of such defects ranges from braces to physiotherapy and surgery to prosthetics, depending on the condition.


baby born deformed

Atrioventricular Septal Defect:

This common type of birth defect occurs in 1 in every 1900 births. The atrioventricular septal happens when there is both a heart hole and a problem with the heart valve. Some birth defects included the area of the upper heart chamber known as the atria. In contrast, the complete abnormality involves a large hole at the junction point of ventricles and atria and an abnormal valve between ventricles and atria instead of separate valves. However, newborns with partial or complete defects require heart surgery.

Cerebral Palsy:

It is a group of health problems that affect the person’s potential to move without the support and maintain optimal balance and correct posture. It is one of the most typical birth defects affecting numerous children.

What are the Signs of an Abnormal Baby or Birth Defects?

The vast majority of newborn babies in the world are healthy. However, the signs of abnormality cannot be ignored as they can lead to disability or even death in serious cases. Here are some of the common symptoms of birth defects:

  • Abnormal shape of head, ears, eyes, mouth, or face.
  • Trouble feeding
  • Frequent injections.
  • The spinal cord is not fully enclosed.
  • Abnormal shape of hands, limbs, and feet.
  • Slow growth.
  • Joint problems.
  • Kidney problem.

These are the common symptoms of all babies with birth defects. Some symptoms might seem familiar for adults or older people, but these are severe conditions for infants.

What are 3 Birth Defects Examples?

If you dive deep to understand all birth defects, you might end up in a rabbit hole where you do not know the exact direction. It is because there are thousands of birth defects ranging from minor ignorable to serious life-threatening ones. However, we have listed 3 common examples of birth defects to make comprehension convenient for you.

Spina Bifida:

Spina Bifida is a common example of musculoskeletal disease. It is the condition when the fetal backbone does not normally. The condition can be severe or mild. However, Spina bifida defects can be prevented with surgery.


baby born deformed


Hemophilia is a rare yet deadly disease that passes from generation to generation. It prevents blood from clotting. It happens due to the lack of protein responsible for clotting, known as fibrinogen. Blood clotting is an essential factor that stops bleeding after a cut or injury. If a patient endures a cut that goes untreated, he can bleed to death.

Neural Tube Defects:

neural tube are health condition that occurs when neural tube does not close properly. neural tube forms early brain and spinal cord. This kind of birth defects are caused by folic acid deficiency or other reasons. and starts during pregnancy. It occurs even before a women know that she is pregnant. However, healthcare provider may suggest a pregnant to consume 400 mcg of folic acid for treatment.

How are Birth Defects Diagnosed?

Birth defects are generally diagnosed through the tests done on blood samples or saliva. Healthcare providers do some tests before a baby’s birth, when a woman is pregnant, right after birth, or after a few years to track the progress.

Genetic test can also be done during pregnancy on amniotic fluid or placenta. However, healthcare providers offer testing at every stage of fetal development to ensure good health. Here are some of the common tests that healthcare provider may suggests in the first trimester:

  • Maternal blood screening: Blood tests determine the protein level and fetal DNA in maternal blood. Suspicious reports can signal a chromosomal disorder.
  • Ultrasound: It is another kind of test done by a healthcare provider to check fluidity. Increased fluid can be a sign of an increased risk of heart defect.

The next trimester follows these blood tests or others to check for problems related to physical structure:

  • Anomaly ultrasound: It checks the size of the baby in pregnant women’s womb or indicates if there is any physical problem.
  • Maternal serum screen: It is another effective test to determine if this is a chromosomal disorder or Spina bifida.

In the third and last trimester, more tests are recommended by healthcare providers. The final part of the tests includes:

  • Chorionic villus sampling: The healthcare provider will get a small piece of placenta for this test. It will be examined for genetic or chromosomal disorders.
  • Fetal MRI: This test is recommended in the case of suspected birth defects. It especially takes place to study a baby’s brain inside the womb.

Many birth defects cannot be diagnosed during pregnancy and can be seen right after surgery. However, keep an eye on the symptoms and routinely report to your healthcare provider.

How are Birth Defects Treated?

The options of treatment for congenital defects vary according to intensity and condition. Some defects can be prevented fetal birth defects. On the other hand, other birth defects may affect a child for their entire life. Less severe or unnoticeable birth defects can be irritating, but they do not typically affect life prominently.

Regardless of the condition, the healthcare provider always tries to save the baby by adopting the following methods:

  • Surgeries: birth defects related to skeletal issues or other deformities such as neural tube defects can be treated through several surgeries. It can not only fix defects but also ease dangerous symptoms. Many people with structural birth defects, for instance, cleft lips, are suggested for plastic surgery by a cosmetic surgeon. Many babies with heart problems also need surgery to survive.
  • Medication: medicines and drugs such as folic acid are effective means to treat some birth defects or to lower the possibility of complications of a few defects. Folic acid can reduce certain birth defects related to brain and spinal cord. Sometimes, pregnant mothers have been prescribed drugs to treat fetal defects.
  • Home care: birth defects such as Clubfoot can be treated with home health care or physiotherapies. Therefore, the parents may be suggested to follow particular instructions for bathing and monitoring infants while feeding or playing.

What are the 5 Major Classifications of Birth Defects?

Due to thousands of birth defects it has been classified into five main categories depending on the type of abnormality or the affected part. birth defects include:

  1. Skeletal anomalies: Skeletal birth defect is related to the problem of the structure of body parts. Abnormal limb, Clubfoot, and neural tube defects are examples of skeletal deformity.
  2. Nervous system anomalies: These defects revolve around intellectual or developmental disability. Seizures, behavioral disorders, movement trouble, and speech and language difficulties. Down syndrome and Fragile x syndrome are common examples of brain problems.
  3. Sensory anomalies: As the name indicates, these birth defects are caused by abnormal development and are related to impaired senses. Visual problems, and hearing loss, for instance, blindness, are commonly seen as sensory problems.
  4. Metabolic disorders: The defects are related to particular chemical reactions in the body. For instance, it is the conditions in which the body’s ability is limited to eliminate waste materials and harmful chemicals. Hypothyroidism and phenylketonuria are two common metabolic diseases.
  5. Degenerative disorder: These defects are not visible at birth but cause one or more aspects of health gradually worsen the condition. For instance, muscular dystrophy and X-linked adrenoleukodystrophy lead to nervous system problems and the adrenal glands.


With increasing population and pollution, the food is generally contaminated. People have been experiencing these defects for ages. Technology and advanced treatment techniques have made it possible to treat multiple birth defects, but still, parents need to follow instructions to minimize the possibility. Moreover, parents need to stay clam once birth defects diagnosed as the birth defects may be genetic or can be improved with treatment.

The increased ratio of birth defects caused by different reasons is not suspicious because the reason is visible. It is a lack of awareness about the causes and symptoms of birth defects. For this purpose, the march of dimes has taken steps and is leading the fight for the health of all mothers and infants as they believe every baby deserves the best beginning.

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