Research Journal of Congenital Diseases

About Research Journal of Congenital Diseases

Research Journal of Congenital Diseases is an open access, peer reviewed, scholarly journal that focusses on the dissemination of contemporary research developments pertaining to the detection, prevention and treatment of congenital diseases. The journal is aimed towards exchange of information between physicians and scientists working on various aspects of health service research and Paediatric medicine.

The journal publishes recent clinical research findings in the field of: Congenital diseases, Abnormal physiological development, Birth defects, Pregnancy, Epidemiology,  Adolescent medicine, Critical care medicine, Developmental and Behavioural medicine, Endocrinology, Neonatal-perinatal medicine, Emergency medicine and other paediatric subspecialties.

The Research Journal of Congenital Diseases welcomes manuscripts that elucidate the cellular and molecular mechanism involved in the progression of congenital health anomalies. Articles highlighting various aspects of teratology and etiology of congenital diseases, abnormal physiological development, birth defects, pregnancy, epidemiology, pathology and anatomy are solicited. The journal provides an open platform for the exchange of viewpoints, hypotheses, clinical experiences of practicing physicians, genetic and ethical issues prevalent in the treatment of congenital diseases.

The journal encourages worldwide research and publication of novel ideas which may help in unravelling the unsolved mysteries related to the occurrence and treatment of congenital diseases. Submit manuscript to our Editorial Office at www.editorialmanager.com/scholarlyjournals or you can send it directly by E-mail at [email protected]

Anencephaly

Anencephaly is the absence of a major portion of the brain, skull, and scalp that occurs during embryonic development. It is a cephalic disorder that results from a neural tube defect that occurs when the rostral (head) end of the neural tube fails to close, usually between the 23rd and 26th day following conception.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Anophthalmia / Microphthalmia

Anopthalmia is a term used for the disorder in which one or both the eyes are absent, while in Microphthalmia one or both the eyes are abnormally small. Anophthalmia and Microphthalmia are the birth defects which causes the limitation of vision.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Anotia/Microtia

Anotia/Microtia: People of Anotia syndrome usually born without the presence of external ear, while in Microtia small portion of external ear is present, or the incompletely formed external ear is present.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Cleft Lip / Cleft Palate

Cleft lip and Cleft palate are the incomplete formation of lip or mouth during very early in the pregnancy stage. Cleft lip contains the formation of lip that may extend into the nose, while cleft palate includes the direct connection of the mouth to inside of the nose by a hole in the oral cavity.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Congenital Heart Defects

Congenital heart defect or congenital heart disease is a general medical term that is used for the range of birth defects that includes the deformation of heart structure during birth. It effects the flow of blood through the heart. It may include the number of defects including simple defects with less symptoms or no symptoms to the complex defects with hazardous symptoms.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Atrial Septal Defect

Atrial Septal Defect is a kind of Congenital Heart Defects (CHD) in which a hole is present in the wall (septa) that separates the two upper chambers of the heart (atria). It causes the leakage of oxygen rich blood directly from the left side chamber to the oxygen poor blood in the right side chamber.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Atrioventricular Septal Defect

Atrioventricular Septal Defect is one of the commonly recognised congenital cardiac anomalies, that affects the valves of the heart and causes the large defect in the centre of the heart. It is also known as endocardial cushion or atrioventricular canal defect that contains the improperly formed valves which controls the flow of blood, or the holes are present in the septa of the chambers either from the left side or the left side.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Coarctation of the Aorta

Coarctation of the Aorta means the narrowing of the aorta or the abnormality in the structure of aorta. It usually occurs in the region of ductus arteriosus (responsible for blood flow), typically present in the left side of the heart, that causes the work of left ventricle harder.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

D-Transposition of the Great Arteries

Transposition of the arteries involving a group of congenital anomalies that includes the reverse arrangement of the two great/main arteries of the heart. These two great arteries refer to the aorta and the pulmonary artery. The transposition of these great arteries disrupts the pathway of the blood.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Tricuspid Atresia

Tricupsid Atresia is an absence of tricuspid valve that defects the right artrioventricular connection that causes the absence of right ventricle. It occurs during the embryonic development leads to the abnormal flow of oxygenated blood in the body.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Hypoplastic Left Heart Syndrome

Hypoplastic Left Heart Syndrome is the defect of the left side of the heart in which the valves are either too closed or are too small that affects the flow of blood through them. It is a rare heart defect in which the left side of the heart is critically underdeveloped.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Pulmonary Atresia

Pulmonary Atresia is a cardiac birth defect that occurs when pulmonary valves are not formed properly that controls the flow of blood from the heart to the lungs.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Tetralogy of Fallot

Tetralogy of Fallot is a heart defect present at birth, showing the symptoms of bluish colour to the skin when the babies cry or during feeding, with having the difficulty in breathing. They may also be having loss of consciousness. In most of the cases the infants are smaller than expected for age.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Total Anomalous Pulmonary Venous Return

Total Anomalous Pulmonary Venous Return is a cyanotic cardiac birth defect in which the veins that receives the blood from the lungs and takes to the heart are not properly connected to the heart. It includes the abnormal drainage anatomy of the whole pulmonary venous connection.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Truncus Arteriosus

Truncus Arteriosus is a rare congenital heart disorder in which only one vein truncus arteriosus comes out of the heart, instead of two veins pulmonary trunk and aorta, i.e., the failure of the complete separation of truncus arteriosus during development.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Ventricular Septal Defect

A Ventricular Septal Defect is the congenital cardiac anomaly that affects the septa of the ventricular that divides the two lower chambers, leading to the hole or the absence of the ventricular wall, causing a common ventricle.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Craniosynostosis

Craniosynostosis is a rare birth defect of skull in which the Sharpey’s fibre that bounds the bones together ,fuses, that causes the deformation of bone by leading to the abnormal facial or skull structure.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Diaphragmatic Hernia

Diaphragmatic Hernia is a defect of Diaphragm during prenatal stage, which is recognised by the presence of an opening in the diaphragm that allows the content of the abdomen to come into the chest cavity of fetal. It also affects the growth of the lung of the baby, that causes problem to the baby after the birth.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Down Syndrome

Down Syndrome is a genetic disorder that causes the disability in the physical characteristics and learning capability. It is caused by the presence of third copy of chromosome 21. The IQ of one’s having down syndrome is not even equivalent to the others of his age.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Encephalocele

Encephalocele is a congenital defect that results from a neural tube defect leading to the presence of the sac like protrusion of the brain and the membrane that cover it through an opening. It is also known as cranium bifidum, occurs during the embryonic development.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Esophageal Atresia

Esophageal Atresia is a defect of esophagus, in which the connection of esophagus to the stomach is not present. The esophagus ends into a blind pouch, instead of connecting with the stomach.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Gastroschisis

Gastroschisis is a congenital disorder which occurs during prenatal, in which an opening or the hole is formed in the baby’s abdominal wall, that causes the formation of the intestines or may be some other organs outside the baby’s body.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Hypospadias

Hypospadias is a congenital abnormality occurs in the males in which the openings of the urethra is not at the actual area, but it may form on the underside of the penis.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Microcephaly

Microcephaly is a rare congenital anomaly that is related with the anencephaly, which is recognised by the small head or the complete development of the brain is not formed.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Spina Bifida

Spina Bifida is the congenital defect in which the closing of the membranes and the backbones around the spinal cord is not formed. It is a neural defect, that leads to the swelling in the back, hairy patches. It usually occurs in the lower region of back.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

Upper and Lower Limb Reduction Defects

This defect is also known as limb reduction, as it is a defect of limbs that occurs when the foetus fails to develop the entire arm(upper limb) or leg (lower limb) during the development.

Related Journals: Journal of Congenital Anomalies; Journal of Congenital Heart Disease; Journal of Pediatrics and Congenital Disorders; The New England Journal of Medicine

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