PhenomeGene — Human Disease Gene Website SeriesMASP1

Families

3MC syndrome is a rare condition that affects many parts of the body. It is caused by changes in certain genes, including the MASP1gene. A child needs to inherit two non-working copies of this gene (one from each parent) in order to be affected.

Children with 3MC syndrome may look a bit different and may have some health problems at birth or later in life. The severity and combination of features can vary from one child to another.

Although the condition is inherited, it is often seen for the first time in a family, because both parents are usually healthy carriers without symptoms.