Example Of Congenital Abnormalities

The disabilities can range from mild to severe. There are many different types of these defects.

Congenital Fetal Anomalies Ppt Download

Structural disorders in which problems are seen with the shape of a body part and functional.

Example of congenital abnormalities. Congenital brain defects are abnormalities in the brain that are present at birth. Eye abnormalities such as crossed eyes strabismus and retinal degeneration and abnormal or distinctive. Congenital Varicella Syndrome is an extremely rare disorder in which affected infants have distinctive abnormalities at birth congenital due to the mothers infection with chickenpox maternal varicella zoster early during pregnancy ie up to 20 weeks gestation.

For some conditions like cystic fibrosis a child gets the same defective gene from both parents. Major categories of CDG are based on the glycosylation pathway or molecule that is affected. Birth defects are divided into two main types.

Birth defects may result in disabilities that may be physical intellectual or developmental. For example congenital disorder of glycosylation type 1a is now known as PMM2-CDG because a mutation in the PMM2 gene causes this type of CDG. Sometimes even with the right number of chromosomes a gene on the chromosome is abnormal.

Such abnormalities can be identified in 50 of people who have an episode of thrombosis such as deep vein thrombosis in the leg that was not provoked by other causes. Chromosomal abnormalities often give rise to birth defects and congenital conditions. Down syndrome is an example of a congenital condition caused by an extra chromosome.

Thrombophilia sometimes called hypercoagulability or a prothrombotic state is an abnormality of blood coagulation that increases the risk of thrombosis blood clots in blood vessels. A birth defect also known as a congenital disorder is a condition present at birth regardless of its cause. Chromosomal abnormalities alterations and aberrations are at the root of many inherited diseases and traits.

Congenital Malformations Of The Female Reproductive System Concise Medical Knowledge