Congenital Central Hypoventilation syndrome
Inheritance patterns and prenatal diagnosis
Inheritance patterns
CCHS usually arises early in the formation of the new embryo, due to a spontaneous genetic mutation found on Chromosome 4, but in five to ten per cent of cases, one parent may carry the mutated (damaged) gene PHOX2b and pass this on to the child. As this is a "dominant" gene, such children will always be affected.
Prenatal diagnosis
Possible.
How is it treated?
| Is there support? ![]()