Congenital Anomaly/Mental Retardation Syndrome Characterized by Heart Defects

Overview:
Congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are caused by mutations in two genes, PTPN11 and HRAS, respectively. Recently, we identified mutations in KRAS and BRAF in 19 of 43 individuals with CFC syndrome, suggesting that dysregulation of the RAS/RAF/MEK/ERK pathway is a molecular basis for CFC syndrome.

Symptoms:
The signs and symptoms of cardiofaciocutaneous syndrome overlap significantly with those of two other genetic conditions, Costello syndrome and Noonan syndrome. The three conditions are distinguished by their genetic cause and specific patterns of signs and symptoms; however, it can be difficult to tell these conditions apart, particularly in infancy. Unlike Costello syndrome, which significantly increases a person's cancer risk, cancer does not appear to be a major feature of cardiofaciocutaneous syndrome.

Tests/Diagnosis:
Molecular genetic (DNA) TESTING

Treatments:
Currently, there is no cure to treat all of the symptoms of CFC syndrome. However, with proper management and early intervention, much can be done to improve the health of children with CFC syndrome. At present, treatment ultimately depends on the unique characteristics of each individual. These can include heart surgery to repair a structural defect, medications and lotions for the skin problems, or eye surgeries or corrective lenses to improve vision.

Resources:
http://www.cfcsyndrome.com

Personal Story:
I was 26 weeks pregnant was going for a routine check up..they noticed I had a very large build up of amniotic fluid. So over the course of the next few weeks I was monitored. They did amino reductions. At a routine appointment I was having lots of contractions. By this time I was 32 weeks. They hospitalized me for the remainder of my pregnancy but with a follow up ultrasound noticed the baby had fluid around heart and lungs. Our son Braxton was delivered that day at 33 week and 2 days. They told us when he was born he had a 5% chance of survival the first 72 hours. That was devastating. We spent 77 days in the NICU at Kentucky Children's Hospital before we came home in April of 2010. After that he was hospitalized many many times. He has a vp shunt, a feeding tube. Lots of heart problems and lung problems. But it wasn't until Aug of 2011 we found out our little guy was even more special. We had a very long stay in Cincinnati children's hospital where they did lots of genetic testing and we finally got our answer. We had never heard of this syndrome until then. We came home and he was fine for a couple of months and then one day I woke up and noticed something just wasn't right. So I called 911 and they airlifted him back to UK HOSPITAL where he coded 2 times. They told me his airway was closing up so they would have to do a tracheostomy. I was devastated once again. I thought how much more can my little fighter go through. We got to come home a couple weeks after the tracheostomy in May of this year. Since then my little man has progressed significantly. He is truely my miracle from god. He is 2 1/2 years old and smiles all day everyday.


Contributed by MOM Sherrie