Difference between genetic|hereditary and congenital diseases

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Difference Between Genetic

These medical terms designate different entities and although sometimes the same disease can be congenital and hereditary, not all congenital diseases are hereditary and vice versa.

The concepts of the genetic, hereditary and congenital disease often lead to confusion. Sometimes we refer to certain diseases that appear from birth or that are transmitted from one relative to another using terms that are not interchangeable, not all congenital diseases are hereditary and vice versa. That is why it is important to distinguish these 3 terms:

What are genetic diseases?

A genetic disease is one that develops due to changes or alterations in DNA. Sometimes genetic diseases can be hereditary and/or congenital. In fact, there are genetic diseases that do not manifest from birth but can develop throughout life and not to manifest symptoms until adulthood.

What are hereditary diseases?

A hereditary disease is one that is transmitted through the genetic material of parents (or mothers) to their children. The fact that it is a hereditary disease does not mean that it manifests at birth, that is, it may or may not be congenital. On the other hand, although hereditary diseases are caused by genetic alterations, this does not imply that, if one of the parents suffers or is a carrier of the disease, he will transmit it to all his offspring (it will depend on patterns of hereditary transmission).

Difference between genetic|hereditary and congenital diseases
The most common hereditary diseases

Cystic fibrosis, which causes the accumulation of thick mucus and secretions at the pulmonary and also pancreatic, hepatic and intestinal levels.

Huntington’s disease, which affects neurons and causes movement disorders.

Sickle-cell anemia, which alters the shape of red blood cells and alters their ability to transport oxygen.

Myopia, which alters the ability to clearly see distant objects.

Color blindness, in which the ability to recognize certain colors is altered.

Primary dyslipidemias, in which the metabolism of fats is altered independently of the intake.

Phenylketonuria, which can cause brain damage by the accumulation of amino acid.

Hemochromatosis, which causes an excessive accumulation of iron in tissues, especially in the liver.

Neurofibromatosis, which causes characteristic spots on the skin and skin and central nervous system tumors; It is a hereditary and congenital disease.

These cited diseases depend on a single gene and their inheritance can be transmitted following several patterns depending on which chromosome the gene is altered. Other diseases depend on the alteration of several genes in different chromosomes, which means that their inheritance does not follow such a defined pattern, such as hypertension, diabetes, obesity, asthma or Alzheimer’s disease.

What are congenital diseases?

A congenital disease is one that is present from the birth of the baby and can be transmitted by the parents or not. Many of these diseases have a genetic basis, but others may be due to environmental factors, such as exposure of the mother to certain drugs, toxic substances or infections during pregnancy. It is estimated that there are more than 4,000 congenital diseases that can range from mild to severe conditions that can affect more than one organ or systems.

Congenital diseases can be structural if there is a malformation of some internal viscus or that is seen on the outside (head, neck, spine, trunk, genitals or extremities) or metabolic affecting the functioning of any organ without altering its structure. Some of these congenital diseases are:

Cleft lip and cleft palate.

Spina bifida.

Down syndrome.

Presence of an elevated scapula.


Congenital inguinal hernia.

Interauricular communication.

Ureteral duplicity.


Marfan syndrome.

Congenital toxoplasmosis.

Fetal alcohol syndrome.

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