Types of genetic disorder

What Are The Types Of Genetic Disorders: Causes And Their Treatments

Table of Contents

Genetic disorders happen when something goes wrong with the instructions in your body’s Cod, called DNA. They can be mild or very serious and affect your health and life in different Ways. In this article, we’ll look at different types of genetic disorders in a way that’s easy to understand. If you want to do more research then you can also visit Wikipedia’s official website.

1.Chromosomal disorders

chromosomal disorder

It happens when something goes wrong with our cells inside the body and these cell Cells chromosomes control our body’s instructions and carry genetic information So if something goes wrong with these cells then we can face various health problems.

What are the Causes of Chromosomal Disorder?

Genetic Mutations:

Sometimes, we inherit these problems from our parents generically or it happens when during the time baby is born.

Old Age Mothers:

Sometimes, we inherit these problems from our parents generically or it happens during the time the baby is born.

Change In Environment:

It also happens when you live in a bad climate where you might encounter radiation and different chemical problems. There is a possibility A baby can be born with a chromosomal disorder.

Types of Chromosomal Disorder

Down Syndrome:

This happens when a person has a large number of chromosome cells and it leads to different Growth in cells and causes problems.

Turner Syndrome:

This causes problems for girls, making the team shorter and other health problems if they have a problem with one of the chromosome cells.

Klinefelter Syndrome:

This causes problems for boys when they have an extra number of cells then it leads to different health problems.

What Are The Signs?

  • Having problems during learning
  • Looking different in shapes
  • Physical problems
  • Slow growth
  • Mental problems

Diagnosis And Treatments?

It is really important to go through a chemical rest before making a baby because doctors do Different blood and other baby tests if someone has problems then the doctor can suggest Better treatments.

Here are some treatment parents can provide their kids:

  • Special programs for kids which help them to learn and grow
  • Doctors Recommends Medicines
  • Surgery if possible to physical problems

2.Single – Gene Disorder

Single-Gene Disorders

It causes problems if we have a problem or change in our one gene. It can lead to different problems because genes are the instructions and our body works on them like books of recipes. If the recipe goes wrong then outcomes are not satisfying.

What are the Cause single – Gene Disorders?

Genetic Inheritance:

It often moves from families to families and parents transfer it to the next generations and they carry the same mistake in their genes.

Spontaneous Mutation:

These errors can appear when the baby is growing inside the mother and happens by chance.

X – Linked Disorders:

Some gene mistakes are located in the X chromosome. And it usually affects boys more than Girls. Examples include hemophilia and Duchenne muscular dystrophy.

Common Types of Single – Gene Disorders:

Cystic Fibrosis:

This condition appears due to mistakes in the CETR cells. It makes the mucus in the body very sticky and thick, then it causes lung and other health problems.

Huntington’s Disease:

This names when you have problems with your HTT genes it leaves to physical problems like movements and affect your thinking with the passing age.

Sickle Cell Anemia:

This happens when you have problems with HBB cells. It leads to unusual shapes, red blood cells and different health issues.

Signs of Single – Gene Disorders:

  • Long terms health problems
  • Delay in person development
  • Different mental problems
  • Physical difference and health troubles

Diagnosis and How to Deal with Them:

You can use medicine when you see symptoms. It will slow down the damage and people can recover faster. Always talk to a doctor and avoid eating unhealthy food like burgers and pizza.

3.Autosomal Dominant Disorder

Autosomal Dominant Disorder

It also happened due to the problem in a single cell and later it can be pretty dangerous. They are dominant because only one gene with a problem that you inherit from parents can cause you this problem.

What Are The Causes?

Inherited mutations:

This disorder also runs from families to their next generations.

Spontaneous Mistakes:

Sometimes it also happens when the baby is inside the mother due to problems with a single cell.

Common Autosomal Dominant Disorders:

Huntington’s Disease:

If you have problems with your HTT genes then you might face this disorder it can cause moment problems and other physical issues.

Polycystic Kidney Disease:

This makes fluid – filled lumps in the kidneys. It happens because of mistakes in the PKDI and PKD2 genes.

Neurofibromatosis Type 1:

This problem makes a tumor grow in the nervous system. It happens due to a problem in the NF1 gene.


Signs of Autosomal Dominant Disorders

  • Problems with your nervous system
  • Different and strange changes in body organs
  • Growing humps and fluid – filled sack
  • Issues with learning and thinking

Diagnosis and How to Deal with Them?

  • For the diagnosis you should go to the doctor. They will run different tests on your blood and body.
  • Take the help of medicine to slow it down.
  • Try to have surgery if needed.
  • During therapy, family support is important.

4.Autosomal Recessive Disorders?

Autosomal Recessive Disorders

It happens due to a problem with a specific gene and it is different from other genetic disorders. Because it passes down to the child if both parents have problems with their genes.

What are the Causes?

Inherited Problems:

Often. These disorders are passed down from parents who each have a copy of the problem gene. When both parents pass on their problem genes, their child might get the disorder.

Carrying the Gene:

Sometimes, parents can carry the gene for a recessive disorder without having the condition Themselves. But their child can get the condition if they inherit the problem gene from both parents.

Common Autosomal Recessive Disorders:

Cystic Fibrosis:

This condition comes from problems in the CFTR gene and causes thick mucus in the body, Which leads to issues in the lungs and other organs.

Sickle Cell Anemia:

Autosomal recessive sickle cell anemia is because of issues in the HBB gene, leading to oddly-shaped red blood cells and various health problems.

Tay-Sachs Disease:

This condition is caused by issues in the HEXA gene and leads to nerve cell breakdown, causing problems with growth and thinking.

Signs of Autosomal Dominant Disorders

  • Long-term health problems
  • Delays in growth and development
  • Problems with the nervous system
  • Unusual physical features

Diagnosis and How to Handle Them

To find out if someone has an autosomal recessive disorder, doctors may do gene tests. Once the problem gene is found, there are ways to manage it, like Medicines to help when you notice symptoms that will slow down the effect. Adopt a healthy lifestyle and good diet for a better life Support of family is very important

5.Mitochondrial Disorders

Mitochondrial Disorders

Our body has a cell’s powerhouse named mitochondrial. when something goes wrong with it, then it becomes the cause of mitochondrial disorder. This can lead to different health problems

Causes of Mitochondrial Disorders?

Genetic problem:

Most of the time kids get this issue from their parents genetically.

Spontaneous Mistakes:

Sometimes this issue can also be caused by chance and infect people for a lifetime.

Common Mitochondrial Disorders:

Leigh Syndrome:

It is a serious mental disorder and often causes due problems with mitochondrial DNA and it can come genetically.

MELAS Syndrome:

It is an issue that disturbs the brain and muscles due to problems with mitochondrial DNA. It can also lead to muscle weakness and seizures.

Kearns-Sayre Syndrome:

It affects multiple parts of your body and also causes if you to have issues in your mitochondrial DNA.

Signs of Mitochondrial Disorder:

  • Muscles weakness
  • You will feel tired all the time
  • Having issues with the brain and nerves
  • Problems with organs

Diagnosis and How to Handle Them

  1. We have to go for a proper body check-up with a doctor who will run different blood tests to identify issues.
  2. The use of medicine at the right time can help you a lot.
  3. Adopt a special diet and nutrition support.
  4. Try to get physical and occupational therapy to feel relaxed.

6.Complex Health Disorder?

Complex Health Disorder

It is different from other genetic disorders because it’s like a puzzle which does not come from a single thing. If you have to under it we need more research but let’s break down this puzzle together please read more below.

Its causes and risk factors?


One of the major problems is you might inherit these problems from your parents because in some cases these issues are passed down to the next generations automatically.

Climate change:

Also if you live in a polluted area and you eat unhealthy food all the time it can also lead you to complex disorders.

Lifestyle Choices:

It really matters how you live life because if you smoke too much or you live an unhealthy life then it can cause different health problems .

Common Complex Health Problems:

Type 2 Diabetes:

Type 2 Diabetes is a genealogical problem that is passed to you because of your family due to being overweight or unhealthy.

Heart Disease:

If your family always has heart problems or high blood pressure issues then it can also pass down to you.


It is due mix of genes or if you have a terrible situation in life then you encounter depression disorder.

Symptoms and Diagnosis:

As we know there is no cause of these problems so we should go to a doctor who can identify if it’s a genetic problem or due to some other reasons.

Management and Prevention:

  • Changing in life
  • Eating healthy
  • Relax your mind and try to go on a trip.
  • Take medicine on time to reduce the effects

7.Genomic Imprinting Disorder

Genomic Imprinting Disorder

It happens when some certain genes do not work properly in our DNA. And the weird thing is these genes act differently even if we inherited them from our mother or father. Also it can lead to many different health issues.

What Are The Causes?

Gene Confusion:

These disorders cause our genes to mix up in our DNA and pass down to us due to the family from our parents.

Inheritance Patterns:

The inheritance of genes from our parents matter a lot in this disorder. If you get more genes from your mother or dad it can be caused.

Some common types:

Prader-Willi Syndrome:

It can cause you to lose genes from your father’s side and it can lead to different health issues like being overweight and overreacting.

Angelman Syndrome:

And this disorder happens when you have genes issues from your mother’s side and it can lead you to slow development and over thinking.

Beckwith-Wiedemann Syndrome:

It causes irregular activity with your genes or due to chromosome 11 and it can cause growth problems, and a big risk of getting a tumor.

Effects of Genomic Imprinting Disorders:

  • Delays in growth and development
  • Over thinking and bad temper
  • Health problems or physical difference issues
  • A higher chance of tumor

Diagnosis And How To Prevent:

You have to go to the doctor he will run different genetic tests on you to identify any problems:

Try to use proper medicine and therapy for better development.

Keep going to the doctor and monitor your body to prevent serious damage.

8.Parental Genetic Disorder

Parental Genetic disorder

It can be caused by the genes a baby inherits from its parents when he is still inside its mother and this problem passes down from family to family sometimes.

What are the Causes?

Inherited Genes:

It is caused due to the issues running in the family and the baby inherits them from its parents who already have the same genes with issues from their family.

Surprise Changes:

In some other cases, the changes happen to the baby during the growth when the baby is still inside the mother even if he doesn’t have any problem with family genes.

Common Prenatal Genetic Issues:

Down Syndrome:

It is a problem caused due to an extra chromosome. And it can lead you to mental and physical problems.

Cystic Fibrosis:

This issue can cause problems with lungs and digestive system and it happens when genes change in a baby’s DNA.

Neural Tube Defects:

This problem occurs when the baby’s spine does not develop properly. Conditions like spina bifida are examples of neural tube issues.

Checking for Prenatal Genetic Issues:


The test is very important to check if the baby is developing right inside the mother and doesn’t have any physical problems.

Blood Tests:

Mothers with pregnancy should do regular blood tests in a month to avoid genetic disorders, like Down syndrome.

Amniocentesis and CVS:

In this test, doctors take fluid around the baby or the placenta to check if the baby’s genes are working well.

What Can Be Done If There's a Parental Disorder Problem:

Continuing the Pregnancy:

Some parents keep going with the pregnancy and prepare everything for the newborn baby.


Deciding Not to Continue:

 In some cases some parents also stop pregnancy due to some serious problems.

Getting Supportive Care:

As we know all these treatments and medicines can heal babies physically but the baby needs the mental support of their family.


Why is it hard to treat genetic disorders?

Lots of genetic disorders happen because there are changes in genes found in nearly all cells of the body. This means these disorders can affect many parts of the body, and most of the time, they can’t be completely cured. But there are ways to treat or handle some of the signs and symptoms connected to these disorders.

Can genetic disorders be harmful?

Changes in genes can lead to health conditions such as cystic fibrosis and sickle cell disease. These gene changes can also result in birth defects, like heart defects. Birth defects are structural changes that are present at birth and can impact various parts of the body, affecting how the body looks, functions, or both.

Is genetic therapy safe?

The estimated annual financial impact of gene therapy in the Our estimates suggest the average cost of gene therapy to amount to $43,110 per unit QALY, several times the average annual expenditure of $16,346 for American cancer patients between 2010 and 2014

What is a gene therapy drug?

Gene therapy is a modern type of medicine that involves delivering a working gene to a specific tissue in the body. This helps produce a missing or non-functioning protein. Using genes as medicine allows the targeting of the root cause of disease at the cellular level, often with just one treatment.

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