Cardiac Urogenital Syndrome
It was not until after Emilia’s genetic testing that we finally had a name for the long list of problems our daughter was born with.
Cardiac Urogenital Syndrome (CUGS) is a recently defined syndrome. The technology required to diagnose a patient has only existed since 2016. The syndrome has a long list of potential congenital defects but the three most common ones are:
Heart defects
Diaphragmatic hernias
Reproductive malformations
Emilia is the 19th reported case worldwide.
This condition is caused by a genetic mutation of the MYRF gene. Little is known about this syndrome since it is so newly defined. Hospitals that do research into these symptoms such as Sick Kids Toronto need your donations so these children can manage their symptoms and lead long, healthy lives. The vast majority of cases do not survive past infancy. More research needs to be done.