Journal of Congenital and Inherited Disorders

About Journal of Congenital and Inherited Disorders

Journal of Congenital and Inherited Disorders is a scholarly research journal that imparts an ample scope for the researchers, scientists, pioneers and common readers globally to gain more information and awareness about the recent advancements and developments in the medical research of the interdisciplinary field addressing Congenital Disorders and Inherited Disorders, which includes the study of Congenital abnormalities and advances in perinatal testing and new diagnostic tests. Journal of Congenital and Inherited Disorders publishes scientific articles covering a wide range of research and study related to various Genetic abnormalities, hereditary and autosomal diseases in the field of genetics and hereditary disorders.

Journal of Congenital and Inherited Disorders is an open access journal that thrives to provide and publish genuine and reliable complete source of data regarding the recently undertaken research topics and studies on medicine and therapeutics.

This scholarly journal is using Editorial Manager® System for online manuscript submission, review and tracking. Editorial board members of Journal of Congenital and Inherited Disorders or outside experts review manuscripts; at least two independent reviewer’s approval followed by the editor is required for the acceptance of any citable manuscript.

Submit manuscript at or send as an e-mail attachment to the Editorial Office at [email protected]

Common Birth Defects

There are more than 4,000 types of known birth defects. They are typically classified as structural or functional/developmental. Structural defects are when a specific body part is missing or malformed.
The most common structural defects are:
• Heart defects
• Cleft lip or palate (when there’s an opening or split in the lip or roof of the mouth)
• Spina bifida (when the spinal cord doesn’t develop properly)
• Clubfoot (when the foot points inward instead of forward)

Functional or developmental birth defects include metabolic defects, sensory problems, and nervous system problems. Metabolic defects cause problems with the baby’s body chemistry. The most common types of functional or developmental birth defects include:
• Down syndrome (causes delay in physical and mental development)
• Sickle cell disease (when the red blood cells become misshapen)
• Cystic fibrosis (damages the lungs and digestive system)

Chromosome Abnormalities

A chromosome anomaly, abnormality, aberration, or mutation is a missing, extra, or irregular portion of chromosomal DNA. It can be from an atypical number of chromosomes or a structural abnormality in one or more chromosomes. Most chromosome abnormalities originate in the egg or sperm (gametes) but some happen during embryo development or are inherited from a parent.

Genetic Abnormality

Genetic abnormality is a disorder that is inherited genetically and caused by one or more problems in the genome, especially a condition that is congenital. Most genetic abnormality is quite rare and can affect one person in every several thousands or millions. Abnormalities can be as small as a single-base mutation in just one gene; they can involve the addition or subtraction of whole chromosomes. Genetic abnormalities may be hereditary. While in other genetic disorders, defects may be caused by new mutations or changes to the DNA.

Autosomal Disease

Autosomal disease means inheriting a specific disease, condition, or trait depends on the type of chromosome that is affected i.e. autosomal or sex chromosome. It also depends on whether the trait is dominant or recessive. Disorders of autosome are much more frequent than disorders of sex chromosome like klinefelter syndrome, turner syndrome. A mutation in a gene on one of the first 22 non-sex chromosomes can lead to an autosomal disorder. Autosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families.

Combination of Genetic and Environmental Problems

Some congenital abnormalities may occur if there is a genetic tendency for the condition combined with exposure to certain environmental influences within the womb during critical stages of the pregnancy (e.g. Spina bifida and cleft lip and palate).

Taking folate supplements prior to conception and during pregnancy decreases the risk of neural tube defects. However, there is also a genetic influence to this type of congenital anomaly.

Single-Gene Abnormalities

When a certain gene is known to cause a disease, we refer to it as a single gene disorder or a Mendelian disorder. Some of the more common single-gene disorders include cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anemia. However, despite advancements in the understanding of genetic etiology and improved diagnostic capabilities, no treatments are available to prevent disease onset or slow disease progression for a number of these disorders.

Drugs in Pregnancy

Drugs use during pregnancy can have temporary or permanent effects on fetus. The drug that acts during embryonic development or fetal development to produce a permanent alteration of function is known as teratogen. Drugs may refer to pharmaceutical and recreational drugs. Drugs are used in over half of all pregnancies and their use ids increasing. The most commonly used drugs comprises of antiemetic, antacids, antihistamines, analgesics, antimicrobials, diuretics, hypnotics, tranquilizers, and social and illicit drugs. During pregnancy drugs are often required to treat certain disorders.

Environmental Toxins and Fetal Development

Environmental toxins and fetal development is the effect of different toxins from the environment on the development of fetus. This article mainly deals with the adverse effects of environment toxins on the prenatal development of the embryo or fetus, as well as pregnancy complications. The human embryo or fetus is relatively susceptible to impact from adverse conditions within the mother's environment. Sub-par fetal condition may cause various degrees of development delays, both physical and mental for the growing babies. Some variables do occurred as a result of genetic conditions pertaining to the father, but many are directly brought about from environmental toxins that the mother is exposed to.

Variation and Inheritance

Members of any given species are exactly the same, either inside or outside. Organisms can vary in size, coloration, ability to fight off diseases and countless other traits. The differences we find between different members of same species are called variation. Genetic variation is the genetic differences both within and among populations. Inheritance refers to the physical features that offspring inherit from their parents, such as eye color, shape of nose, mouth and other distinguishing physical characteristics. Inheritance is the passing of traits from parents to their offspring, either through sexual or asexual reproduction. The process by which an offspring cell or organism acquires to the characteristics of its parent cell or organism.

Birth Defects in Newborns

Birth defect is a problem that occurs when a baby is developing in the womb and may affect how the body looks or works. Most birth defects happen during the first three months of pregnancy. If a baby is born with a part of the body that is malformed, it is called a structural birth defect and most common type of structural defect includes heart defects. Others include spine bifida, cleft bifida, cleft palate, clubfoot, and congenital dislocated hip.

Causes of birth defects

Most birth defects are caused by genetic or environmental factors or a combination of the two (multifactorial birth defects). In most cases, however, the cause is unknown.

Genetic or inherited causes include:
Chromosomal defects - caused by too few or too many chromosomes, or problems in the structure of the chromosomes. Example includes Down syndrome (and extra copy of chromosome 21 and sex chromosome abnormalities (missing or extra copies of the sex chromosomes X or Y).

Single gene defects – a mutation in one gene causes the defect.

Dominant inheritance – A person can inherit a genetic disease when one parent (who may or may not have the disease) passes along a single faulty gene. Examples include achondroplasia and Marfan syndrome

Recessive inheritance – occurs when both parents who do not have the disease pass along the gene for the disease to the child. Examples are cystic fibrosis and Tay Sachs.

Multifactorial birth defects are caused by a combination of genes and environmental exposures. In other words, a person can inherit a gene that increases sensitivity to an environmental trigger. Examples include cleft lip or palate, certain heart defects, and neural tube defects.