Congenital Problems

A child inherits his/her body makeup/characters from both of his/her parents. Sometimes the genetic constitution of the child may have some deviations from normal. These congenital problems are related to genetic makeup of the child.

Common Examples

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Genetic inheritance

1. Autosomal Dominant
2. Autosomal Recessive e.g. cystic fibrosis.
3. X-Linked inheritance e.g. Hemophilia

Abnormality of Chromosomal Number e.g. Down syndrome, Klinefelter syndrome

Down Syndrome

Every normal Human being has 23 pairs of chromosomes. In Down syndrome, instead of 21st chromosomes pair, there is a triplet. So instead of 46 chromosomes there are 47.

The patient has developmental delay, reduced life expectancy and learning problems. The affected individuals are more likely to have congenital heart defects, several types of malignancies, diabetes and other problems.

Genetic disorders of metabolism e.g. Phenylketonuria