Our body’s own instruction manual, genes explain our past and influence our future. We are all born with a blueprint, but is it always genetic?  Today’s factoid uncouples two frequently confused terms, Congenital & Genetic.

A congenital condition is ANY condition that is present at or before birth and may result from genetic factors, environmental factors, or a combination of both. With improved scanning techniques, many of these problems are now picked up while the baby is still in the womb. 

A genetic condition is ANY condition that results from an abnormality in a person’s DNA or genome. This can be inherited or occur spontaneously.

Many congenital conditions have a genetic basis. They may not be diagnosed at birth but have been present throughout a person's life. 

These are Three Types of Congenital Conditions:

STRUCTURAL

A problem with the development of body parts 

-Cleft palate
-Spina bifida
-Hole in the heart

GENETIC

A condition linked to a change in a single gene: 

-Marfan syndrome (caused by a change in FBN1 gene on chromosome 15)
-Cystic Fibrosis (caused by a change in the CFTR gene)

CHROMOSOMAL

A condition linked to changes in the DNA including missing or extra copies of chromosomes:

-Down's syndrome (caused by an extra copy of chromosome 21)
-Turner's syndrome (only in females), caused by a missing or partially missing 'X' sex chromosome

The Marfan Trust is registered in England and Wales under charity number 328070 at c/o 24 Oakfield Lane, Keston, Kent, BR2 6BY. Contact us at [email protected] or by phone on + 44 (0)333 011 5256
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