Parenthood is an experience made up of countless amazing moments, first steps, first words, all the way to adulthood. Raising a healthy child tends to follow this familiar rhythm. However, the story might look a little different when a child is born with a disability. Milestones may come slower, and the demands emotionally and financially may be more challenging. This is the reality for parents of children with cardiofaciocutaneous (CFC) syndrome.

This article will explore the condition cardiofaciocutaneous syndrome [kar-dee-oh-fay-show-kyoo-TAY-nee-iss SIN-drome], its impact on caregivers, the challenges and the daily realities faced. 

Brief explanation of CFC Syndrome

Cardiofaciocutaneous (CFC) syndrome, or BRAF-related CFC syndrome, is a rare disorder passed down from parent to child. It is one of the syndromes in the RASopathies group of conditions, and it affects around 1 in 810,000 babies.^1,3 The most common features that children with CFC have are an unusually large head, a large forehead, fine, thin hair, skin abnormalities like dry skin and hyperkeratosis, heart defects and/or diseases and intellectual disabilities, which result in slower development.^2,3

Discovering the diagnosis

CFC syndrome presents symptoms very similar to other syndromes in the RASopathies group. This makes the diagnosis very difficult. For this reason, diagnosis should be made by a specialist who can recognise the clinical symptoms and confirm them through genetic testing.³ 

Initial signs and symptoms

Prenatally, mothers may experience nutritional deficiencies and weight loss caused by severe nausea and vomiting. Gestational diabetes, gestational high blood pressure, hypertension and preeclampsia may also happen. During pregnancy, the foetus may be surrounded by an abnormal amount of amniotic fluid (polyhydramnios), and the ultrasound may show heart and renal defects in the foetus.⁴ Nearly 50% of CFC babies are premature, which may increase the likelihood of them needing assistance with feeding in the form of a feeding tube; they may need to be intubated and may experience irregular heartbeats.⁴

Parents of newborns with CFC often experience difficulty with feeding.² Children may have gastro-oesophageal reflux disease (GERD), vomit and have a general aversion to food.⁴ This, in turn, causes a delay in overall development as one of the first symptoms of CFC.²

Children with CFC syndrome often take longer to learn how to walk, talk and are slower when it comes to learning ability. Walking independently is often delayed up to 3 years, while other children are unable to walk by themselves at all.⁵ Verbal cues are slow, with many parents using sign language or alternative technologies in order to communicate.⁶ 

Most children diagnosed with CFC syndrome are either born with or develop heart conditions later in life. Almost 75% of children with CFC have some kind of heart problem, the most common being pulmonary valvular stenosis (PVS).^2,7

The most distinctive physical features in children with CFC are short stature, and they tend to be shorter than the expected height. Most children have easily recognisable differences in head and face shape.³ Affected children may have macrocephaly, triangular facies, a slimmer forehead at the sides (bitemporal narrowing), a larger than normal forehead that gives the look of a receding hairline, eyes which are far apart, drooping of one or both eyelids and short noses with upturned nostrils.^4,7

Other common symptoms of children with CFC include:^2,4

• Intellectual disability
• Seizures 
• Behavioural abnormalities 
• Hypnotonia
• Skin conditions like xerosis and eczema
• Reduced bone density
• Eye anomalies 
• Sparse curly or woolly, brittle hair 
• Cryptorchidism in boys 
• Smaller than normal lower jaw 
• Earlobecreases

Getting medical attention and referrals

So far, there is no specific medication or treatment that can cure CFC syndrome. Caring for children with CFC is about dealing with each child’s specific symptoms and often requires the support of different healthcare professionals. 

Here are some of the ways parents of children with CFC syndrome can manage their children’s symptoms:^2,3

Cardiac monitoring and management

CFC-diagnosed children are more often than not at risk of heart problems. Therefore, even when not present at birth, issues can develop over time. If no cardiac issues are present at birth, the children should have cardiac examinations done every 2-3 years up to the age of 20.^2,3 Depending on the severity of the heart issues, a number of interventions can be used to manage any heart problems, including medication, cardiac catheterisation and surgical procedures.²

 Other ways include:^2,3

• To address any skin conditions, continuous dermatology follow-ups are needed, as the risk of skin infections is higher in children with CFC syndrome 
• Neurological anomalies must be assessed by a neurologist; frequent visits for children who experience seizures are essential.
• Consider having a behavioural evaluation done. This can open up options for resources targeted at special education needs and early childhood intervention programmes 
• For children with stomach issues, it is important to have frequent visits to the paediatrician so that the physician can continuously keep track of the child’s nutrition and how the child is growing and recommend any interventions if needed
• Affected children should also have their eyes checked twice a year, while hearing tests are needed every couple of years
• Children with any problems affecting their bones, kidneys, blood, or teeth should visit the respective specialists frequently, as this will help to avoid major health issues and help them live better, more comfortable lives

Challenges of raising a child with CFC

Parents normally spend a lot of time thinking about their children’s future, even more so when the child has a disability. There are many different things to consider when it comes to caregiving for a child with CFC. It involves different amounts of medical, therapeutic and behavioural support. The responsibilities of taking care of a child with CFC can be emotionally, physically and mentally challenging for the caregiver.⁵

Supporting a child with CFC is not without its difficulties. Research shows that children with CFC can struggle with communicating beyond basic needs. Nearly 1 out of 5 children with CFC has some level of behavioural challenges ranging from difficulties developing social skills, failing to pay attention, repeating actions, delays in speaking and, in some cases, even misbehaving.

Caregivers face many daily challenges, like:⁸

• Having to give constant attention to their child 
• Sleep deprivation when a CFC child has trouble sleeping
• Helping the child with hygiene and medical tasks 
• Worrying about the child’s future 
• Struggling to care for other family members 
• Having no time for their own needs 
• Being aware that the child is in pain or lonely
• Fearing the child can get very sick 
• Feeling helpless about the child’s condition 
• Reduced sense of competence 
• Feeding issues

Overall, it is not uncommon that parents of CFC children feel more stressed around caregiving responsibilities, particularly when the child has serious behavioural problems.⁹ 

Coping mechanisms 

Parents or caregivers of children with CFC syndrome normally experience more stress than families considered more typical. This implies that they require more support. Research shows that caregivers more often than not benefit from programmes or strategies that help them cope with stress as well as take care of their children.^5,10

For example, the relationship between a child’s ability to communicate and their caregiver's heightened stress levels highlights the importance of interventions focused on developing the communication skills of children with CFC. Through strategies like total communication, which combines signs, gestures, visual support and spoken or written words, children with CFC can strengthen their communication skills. This gives the parent confidence that their child can express themselves, alleviating some of the communication problems.⁵ 

To help families with CFC children, groups like CFC International often hold conferences. These conferences help caregivers with support and education on taking care of their CFC children. Many caregivers report feeling more informed and better equipped to handle their situations after attending these events.¹⁰

Summary

Cardiofaciocutaneous syndrome is a rare disorder that affects a person throughout their life. It causes problems with the heart, skin and physical features. Children who are affected need to be cared for by several healthcare providers in order to be able to treat health problems related to the heart, skin, feeding and many others. Raising a child with CFC can seem like an impossible set of challenges for a parent or caregiver. Many parents often feel stressed and overwhelmed with the day-to-day realities of caring for children with CFC. It is important for the well-being of both the parents and the children that the parents are able to receive support when it comes to their caregiving responsibilities. Learning about CFC and attending support groups has proved to be beneficial in helping children and families cope with the challenges of CFC syndrome. As this is a very rare condition, there is still a need for more research, awareness and inclusion on the topic.