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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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Late-Onset Combined Immune Deficiency in Chromosome 18q Deletion Syndrome
Chromosome 18q deletion syndrome is a rare genetic disorder, affecting about 1 in 40,000 to 55,000 individuals. It results from the.....
Key Mechanisms Revealed in Chromosome Structure Development
Researchers are advancing the understanding of how chromosome structures evolve during the cell's life cycle. Their study, focusing on motorized proce.....
Cancer Survivorship's Impact on Birth Defects
Children of young cancer survivors may face higher birth defect risks, says UTHealth Houston study ().

A study led by Caitlin C......
Scientists Accomplish Complete Genome Sequencing of Y Chromosome
Researchers have successfully conducted genome sequencing of male Y chromosomes, ultimately creating a comprehensive map of the ent.....
New Zealand Fortifies Bread With Folic Acid to Prevent Birth Defects
Highlights:
  • New Zealand introduces mandatory folic acid fortification in wheat flour to prevent neural tube de.....


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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