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Birla Fertility & IVF
Birla Fertility & IVF

Explain about Genetic Disorder

  • Published on September 26, 2022
Explain about Genetic Disorder

The dysfunction of genes or chromosomes causes genetic disorders. They are conditions passed on from parents to their offspring or transmitted from generation to generation.

Humans have been suffering from various genetic maladies like muscular dystrophy, haemophilia, etc., for many years.

Changes in the DNA sequence can cause these disorders.

Some result from changes during meiosis or mitosis, others due to mutations in chromosomes, and others are acquired through exposure to mutagens (chemicals or radiation).

Thousands of human gene disorders are caused by mutations in a single gene. If this affected gene can be identified, it can be the starting point for developing treatments and therapies.

Genetic disorder types

Genetic disorders are caused by a mutation in a person’s DNA. These mutations can be passed down from parent to child or happen in the womb.

There are many genetic disorders, including congenital, metabolic, and chromosomal abnormalities:

  • Congenital disorders are present at birth and often affect multiple body parts. Some of these conditions are mild, while others are life-threatening. examples include Down syndrome, spina bifida and cleft palate.
  • Metabolic disorders occur when the body cannot properly break down food into energy or nutrients. Examples include phenylketonuria (PKU), cystic fibrosis and galactosemia.
  • Chromosomal abnormalities happen when there is an extra or missing chromosome in a person’s cells, resulting in developmental delays or physical deformities. An example would be Down syndrome, which has an extra 21st chromosome that causes intellectual disability and physical delays.

The chance of passing on a genetic disorder depends on the type of disorder, how many copies of the abnormal gene you have and if the other parent is affected.

Genetic birth defects

Genetic birth defects result from changes in a gene’s DNA sequence. These changes can be inherited or occur spontaneously during egg or sperm development.

Some genetic changes are inherited from a person’s parents, while others develop spontaneously during the formation of sperm or egg cells (referred to as germline mutations). Some common genetic congenital disabilities are given below:

Down syndrome

This condition happens due to the presence of an extra chromosome 21.

It can lead to intellectual disability and physical abnormalities such as low muscle tone, short stature and flattened facial features.

Fragile X syndrome

This disorder affects 1 in 4,000 boys and 1 in 8,000 girls. It causes intellectual disability and behavioural problems, as well as learning disabilities, speech delays and autism spectrum disorder (ASD) features.

ASD is a set of developmental disabilities that can cause social, communication and behavioural challenges.

Tay-Sachs disease (TSD)

TSD is a rare genetic condition that causes progressive damage to nerve cells in the brain and spinal cord.

The damage leads to loss of movement control, blindness and mental deterioration before death when people with TSD reach early adulthood.

Duchenne muscular dystrophy (DMD)

This condition causes progressive muscle weakness and loss of muscle tissue due to an inability to produce dystrophin protein.

DMD usually affects boys, and girls rarely have this disorder due to the location of the gene producing the protein causing the disorder.


Genetic disorders happen due to changes in genes that occur before birth. A change in a single gene could cause it, or changes in many different genes could cause it. They can also be caused by changes to a small number of chromosomes.

Today, various genetic testing technologies are available on the market. Many genetic tests are performed at the level of DNA, while others may be conducted at the RNA or protein levels.

To find the appropriate treatment for the symptoms and complications associated with genetic disorders, visit a nearby Birla Fertility and IVF centre or book an appointment with Dr Rachita Munjal.


1. What are genetic disorders?

Genetic disorders are conditions caused by abnormalities in a person’s genes. Genes contain instructions for building and maintaining the body. They are passed on from a mother and father to their children. Some genetic conditions, such as Down syndrome, can cause profound physical and intellectual disabilities

2. What are the top 5 genetic disorders?

Here are the top 5 genetic disorders:

  1. Cystic Fibrosis
  2. Sickle Cell Anemia
  3. Down Syndrome (Trisomy 21)
  4. Fragile X Syndrome
  5. Phenylketonuria

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