Congenital Disorders/Birth Defects

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What is a Congenital Disorder?

A congenital disorder is a physical or mental health condition that is present in a person from his/her birth. These conditions are also referred to as birth defects. They can affect the child’s physical appearance and also hurt its intellectual abilities. They typically arise due to genetic or environmental factors. 


Even if the condition is not very serious, many people with congenital disorders experience recurrent health problems throughout their lives. Although it may be impossible to prevent birth defects completely, suitable measures can be adopted to reduce the associated risk factors.

How are Congenital Disorders Classified?

The common classification of congenital disorders is as follows:

Genetic Diseases


Fetal Diseases

Intrauterine Growth Retardation

Other Disabilities

Types of Congenital Disorders

The primary types of congenital disorders are as follows:


These disorders are strictly associated with various body parts. Congenital heart disease, Clubfoot, and Cleft lip or Cleft palate are a few examples.


These disorders have an adverse effect on the development of a person’s brain or some body parts. Some examples are Cerebral Palsy, Muscular Dystrophy, and Visual or Hearing impairment.

Structural & Developmental

Disorders such as Down Syndrome and Spina Bifida have both structural and developmental impacts.

What are the Most Common Congenital Disorders?

Some of the most common congenital disorders include the following conditions:

Congenital Heart Disease

A newborn child may have a dysfunctional valve, abnormal blood vessels, or a hole in the heart. These birth defects are typically detected during regular pregnancy scans or by screening the newborn baby.

Cerebral Palsy

This condition is caused by abnormal brain development that leads to poor balance, stiff muscles, and loss of muscle control. It can be detected during the initial years of the child.

Down Syndrome

This chromosomal abnormality occurs due to a difference in the number or structure of chromosomes. It can be detected through genetic testing during pregnancy.

Cleft Lip and Cleft Palate

This is a common birth defect that occurs when the lip or mouth is not formed properly during fetal development. The child may experience severe difficulties in speaking and eating food after birth.

Sickle Cell Anemia

This genetic disorder occurs due to defective haemoglobin in the body. It turns the healthy red blood cells into a sickle shape and blocks the flow of blood. It can be diagnosed through genetic testing.


This disorder affects a baby’s bones and muscles in the legs. The Clubfoot is not straight and usually turns, causing the toes to point toward the other leg. It is a hereditary problem that can be detected during pregnancy scanning. 

Spina Bifida

The baby’s spinal cord does not develop properly in the womb if it suffers from this birth defect. Both genetic and environmental factors can lead to this condition. It can be diagnosed either during pregnancy or after the child’s birth.

What are the Causes of Congenital Disorders?

There are several causes of congenital disorders. The details are as follows:

Genetic defects

Chromosomal abnormalities

Nutrient deficiencies

Side effects of certain medicines

Exposure to harmful chemicals or substances

Complications arising during pregnancy

Environmental teratogens (i.e. factors causing embryo malformations)

Multi-factorial inheritance, i.e. many risk factors contributing to a birth defect

What are the Signs & Symptoms of Birth Defects?

Moderate to severe symptoms of birth defects can be present in any part of the body. Pregnancy screening tests generally show the following symptoms:

Certain abnormalities in the internal organs (such as heart or lungs) of the fetus

Abnormal protein levels that can detected through a blood test

Additional fluid secreted behind the neck of the fetus

There are other symptoms evident only after the child’s birth. They include:

Cardiac problems such as irregular beating or a hole in the heart

Moderate to severe difficulty in breathing

Problems in other parts of the body, such as the kidney or the intestine

Weak or deformed spinal cord

Persistent infections

Abnormal physical appearance

Difficulty in feeding the child

Lack of response from the child to visuals or loud noises

The inability of the child to meet its age-specific developmental milestones

How are the Birth Defects Diagnosed?

Birth defects can be diagnosed by medical professionals during pregnancy or any time after the child’s birth based on visible symptoms. Some of the common screening tests during pregnancy include the following:

Blood Test

This can detect any irregularities in the protein levels or free fetal DNA in the mother’s blood


An ultrasound test checks for the excess fluid in the neck of the developing fetus. This can be a potential sign of chromosomal abnormality or a heart disease. Further, anomaly ultrasound testing may be required to assess the growth of the fetus.

Serum Screening

This is another test that can detect possible chromosomal problems

If the screening test reveals something abnormal during pregnancy, the doctors may recommend a diagnostic procedure. This is also essential in pregnancy complications and high-risk deliveries. A few of the popular diagnostic tests are Fetal MRI, Fetal ECG, and Amniocentesis.


Some of the physical birth defects can be detected immediately after the child is born. A few others, such as cerebral palsy, can be diagnosed later based on the child’s mental state and developmental milestones.

Frequently Asked Questions on Congenital Disorders

A wide range of factors, including genetic and environmental causes, can result in birth defects or congenital disorders. Many of them are beyond our control and cannot be prevented. Here, the risk factors can be alleviated by taking suitable measures. However, a few congenital disorders can be prevented by adopting a healthy lifestyle, taking health supplements, and avoiding exposure to hazardous substances.

The treatments for congenital treatments are not fixed. They generally vary based on the nature of the symptoms and disease. The treatments include medicines, therapies, and surgeries.

Doctors can undertake a medical examination of newborn babies after a few days of birth to detect potential anomalies in the blood, heart, chromosomes, hearing, and sight. This procedure is called newborn screening. This helps to detect the problems early and prevent them from becoming serious or life-threatening.