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Genetic and Metabolic :
Birth Defects - Genetic

Medindia’s support group on genetic birth defects discusses the transmission and management of several birth abnormalities passed on through the parents’ genes, including Down syndrome, Achondroplasia, Hemophilia and Cystic fibrosis.

If you have concerns on any genetic birth defect, this support group will help clarify all your queries on the subject.

 

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New Test Predicts Which Drugs, Chemicals Cause Birth Defects
Screening platform named devTOX quickPredict (devTOXqP) developed by Stemina Biomarker Discovery, has the ability to predict developmental toxicity in.....
Study Offers Fresh Insights into Chromosome 21 and Its Effect on Down Syndrome
In mice with Down syndrome, the specific regions of chromosome 21, which cause memory and decision-making problems, have been discovered by UCL resear.....
Antibiotics Cause Birth Defects When Used During Pregnancy
Babies of mothers prescribed macrolide antibiotics during early pregnancy are at more risk of developing birth defects like heart defects, compared wi.....
Zika Birth Defects and Malnutrition are Linked
Malnutrition is found to be associated with increased risk of Zika birth defects, stated a new study led by researchers from the University of Oxford .....
Haemophilia Patient's Bladder Reconstructed in Bangalore Hospital
Haemophilia patient's urinary bladder was reconstructed at the privately-run Fortis hospital through surgery; an official said.

"The surg.....


Klinefelter's Syndrome - Causes, Symptoms, Diagnosis, Treatment & Complications
Klinefelter's Syndrome is the most frequent sex chromosomal genetic disorder and is caused by the presence of an extra X chromosome... Read More
Triple X Syndrome - Causes, Symptoms, Diagnosis, Treatment & Prevention
Triple X syndrome is a genetic disorder seen in females characterized by the presence of an extra X chromosome... Read More
von Willebrand Disease (vWD)
von Willebrand's Disease (vWD) is an autosomal dominant inherited bleeding disorder that occurs from birth and affects both sexes... Read More
Turner Syndrome - Causes, Types, Symptoms, Diagnosis, Treatment
Turner syndrome, a genetic developmental disorder in females is caused by a missing or incomplete X- chromosome. Girls are short and have dysfunctional ovaries... Read More
Tetralogy of Fallot - Causes, Clinical Features, Diagnosis and Treatment
Fallot’s tetralogy is a rare and complex birth defect of the heart. Babies born with this condition turn blue (cyanosis) due to inadequate oxygen in their blood. Know more about Fallot’s tetralogy and its treatment... Read More
Superior Canal Dehiscence
Superior canal dehiscence (SCD) results from a break in the bone above the semicircular canal, caused either by birth defects or due to a head trauma... Read More
Solitary Kidney - Causes, Symptoms, Diagnosis, Treatment
Solitary kidney does not pose a grave health risk but it does require additional care. Find out how solitary kidney affects one’s health and quality of life and how to live with the condition. .. Read More
Prenatal Screening Test
Prenatal screening involves various tests to assess the risk of the unborn baby to be born with a chromosomal anomaly, neural tube defect or any birth defect... Read More
Pierre Robin Syndrome / Bird Facies- Introduction
Pierre Robin syndrome/Bird Facies- is genetic defect, which gives rise to a very small lower jaw, called cleft palate and a condition called as retroglossoptosis, where the tongue appears to fall into the throat.. Read More
Pentalogy of Cantrell (Birth Disorder) - Causes, Diagnosis & Treatment
Pentalogy of Cantrell or thoracoabdominal syndrome is an extremely rare birth disorder involving defects in the coverings of the organs within the abdominal cavity, the heart and its covering membrane, the breastbone and diaphragm. The exact cause is unknown... Read More



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