Cardiofaciocutaneous (CFC) Syndrome: What Parents Need to Know About This Rare Genetic Disorder
Updated: 3 days ago
Medically reviewed by Dr. Baraa Alnahhal, MD · Last reviewed: October 2026
Quick Answer
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder, a type of RASopathy, affecting the heart, face, skin, hair and development. Key signs include heart defects, dry rough skin, sparse curly hair and developmental delays. It is mostly caused by random mutations, most commonly in the BRAF gene. There is no cure, but a specialist team manages symptoms.
What the research says
Heart, hair and skin features are very common. In 38 people with a confirmed CFC gene mutation, 71% had a cardiac anomaly (pulmonary valve stenosis 42%, hypertrophic cardiomyopathy 39%, atrial septal defect 28%), 92% had curly hair, 73% had keratosis pilaris, and 49% had seizures (Armour & Allanson, Journal of Medical Genetics, 2008 [1]).
Brain and development are affected in nearly everyone. In 39 people with molecularly confirmed CFC, hypotonia, motor delay, speech delay and learning disability were universally present; seizures occurred in 15 people, and ventriculomegaly or hydrocephalus in 14 of the 32 who had brain imaging (Yoon et al., Developmental Medicine & Child Neurology, 2007 [2]).
A gene change is found in most, but not all, clinically diagnosed cases. Among 56 people with CFC syndrome, 35 (62.5%) had a mutation — 24 in BRAF, 3 in KRAS and 8 in MAP2K1/2 — and clinical features did not differ significantly between gene groups (Narumi et al., American Journal of Medical Genetics Part A, 2007 [3]).
What Is Cardiofaciocutaneous Syndrome?
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder that affects many body parts, especially your heart (cardio-), face (facio-), and skin and hair (cutaneous). The condition also causes developmental delays, intellectual disability, and growth problems.
The condition is a type of RASopathy. RASopathies are a group of genetic conditions involving the RAS pathway, which is how your body’s cells communicate with each other.
How Common Is CFC Syndrome?
Cardiofaciocutaneous syndrome is rare. Some reports estimate that the condition occurs in 1 of every 810,000 births. Only a few hundred cases have been reported in the medical literature.
But scientists believe the number is higher. Mild cases may go undiagnosed, and CFC syndrome can be confused with other genetic conditions. The 1-in-810,000 figure comes from a single study in Japan, according to the National Organization for Rare Disorders (NORD), and MedlinePlus notes that the true incidence is not known.
What are the signs and symptoms of cardiofaciocutaneous (CFC) syndrome?
Signs and symptoms of CFC syndrome vary widely. They can range from mild to severe, and they can affect several different body parts.
How Does CFC Syndrome Affect the Heart?
CFC syndrome usually involves your heart. Most people with the condition are born with a congenital heart defect, which may cause symptoms right away or later in life. Defects may include:
Heart problem | What it means |
|---|---|
Abnormal heart valve | Affects the flow of blood from your heart to your lungs |
Heart murmur | An unusual sound made by blood flowing through the heart |
Ventricular septal defect | A hole in your heart between the two lower chambers |
Atrial septal defect | A hole in your heart between the two upper chambers |
Hypertrophic cardiomyopathy | Weak heart muscle |
How Does CFC Syndrome Affect the Skin and Hair?
Almost everyone with this disorder has signs that affect their skin and hair, like:
Skin or hair sign | Description |
|---|---|
Dry, rough skin | Skin lacks moisture and feels rough |
Dark moles (nevi) | Dark pigmented spots on the skin |
Sparse or missing eyelashes and eyebrows | Less hair on the lashes and brows |
Hair changes | Hair that is sparse, brittle, dry, and curly |
Keratosis pilaris | Small bumps on the arms, legs, and face |
Wrinkled palms and soles | Wrinkled palms of the hands and soles of the feet |
What Facial Features Does CFC Syndrome Cause?
The syndrome also involves abnormal facial features:
Facial feature | Description |
|---|---|
Broad, long face | Wider and longer than typical |
Drooping eyelids (ptosis) | Upper eyelids hang lower than normal |
Widely spaced eyes | Eyes set far apart, slanting downward |
High forehead with narrow sides | Forehead appears high; sides are narrow |
Large head (macrocephaly) | Head is larger than expected |
Low-set ears | Ears sit lower on the head |
Short nose | Nose is shorter than typical |
Small chin | Chin appears smaller than typical |
What Other Problems Can Children Experience?
Children with this condition also may experience:
Developmental delays and intellectual disability, often moderate to severe
Difficulty eating
Hydrocephalus (excess fluid in the brain)
Low levels of growth hormones
Seizures
Trouble gaining weight and growing (failure to thrive)
Vision problems
Weak, floppy muscles (hypotonia)
What Causes Cardiofaciocutaneous Syndrome?
Cardiofaciocutaneous syndrome is caused by a change, or mutation, in one of several genes that guide cell communication during fetal development.
Gene | How common |
|---|---|
BRAF | Most common (about 75% to 80% of cases) |
MAP2K1 and MAP2K2 | Second most common (about 10% to 15% of cases) |
KRAS | Rare (fewer than 5% of cases) |
The percentages come from MedlinePlus Genetics. These genes give your body instructions to make proteins that are important to cell communication. That communication is known as the RAS/MAPK pathway, and it is essential to fetal development.
Some people who have been diagnosed with CFC syndrome do not have one of the genetic mutations. Scientists believe that those people may have Costello syndrome or Noonan syndrome instead.
Is CFC Syndrome Inherited?
Most cases of cardiofaciocutaneous syndrome are not inherited. The gene mutation usually occurs spontaneously (randomly) during fetal development. Most people with the disorder have no family history of it.
Rarely, the syndrome can be passed down. When it is inherited, it is an autosomal dominant condition. That means you only need one copy of the mutated gene from one unaffected parent who carries the mutation.
How Is Cardiofaciocutaneous Syndrome Diagnosed?
Cardiofaciocutaneous syndrome is sometimes discovered before birth, during a prenatal ultrasound. Early signs include extra amniotic fluid (liquid surrounding the fetus) or a head and body that are larger than expected.
But most cases are diagnosed during infancy. When your baby has physical signs of the disorder, a healthcare provider may order tests like:
Test | What it checks |
|---|---|
Electrocardiogram (EKG), echocardiogram, or cardiac catheterization | Your baby’s heart function |
Molecular genetic testing | Gene mutations, usually from a blood sample or cheek swab |
X-ray, CT scan, MRI, or ultrasound | Abnormal formation of your baby’s heart, brain, or other organs |
Stereoelectroencephalography | Brain waves and seizure activity |
Vision tests (ophthalmoscopy) | The inside of your baby’s eyes |
How Is It Different From Costello Syndrome or Noonan Syndrome?
The signs and symptoms of CFC syndrome are similar to Costello syndrome and Noonan syndrome. It can be difficult to tell the three genetic conditions apart, especially in infants.
But the three disorders are caused by different genetic mutations. And unlike CFC syndrome, Costello syndrome increases a person’s chances of developing cancer.
How Is CFC Syndrome Treated?
CFC syndrome has no cure, so children with it are cared for by a team of specialists whose treatments vary with each child's needs. Children with the disorder need a team of specialists, often including a cardiologist, dermatologist, endocrinologist, gastroenterologist, geneticist, neurologist, occupational therapist, ophthalmologist, pediatrician, physical therapist, radiologist, and speech therapist.
Treatments vary widely depending on individual needs, but they may include:
Treatment | What it is for |
|---|---|
Antibiotics | To prevent infections, particularly with certain heart conditions |
Anticonvulsants | To control seizures |
Feeding tube | Through the nose or into the stomach skin to deliver calories and nutrients |
Glasses, contacts, or surgery | To improve vision |
High-calorie, nutrient-rich foods | For growth and nutrition |
Lotions or ointments | To relieve dry skin |
Heart and digestive medications | To help the heart function better or relieve digestive problems |
Growth hormone medications | To increase growth hormones |
Brain shunt | In the space around the brain to drain fluid and relieve pressure (hydrocephalus) |
Heart surgery | To correct heart abnormalities |
Cardiac procedures | To fix an abnormal pulmonary valve |
What Is the Outlook?
The life expectancy for people with CFC syndrome depends on the severity of the symptoms. With proper diagnosis and treatment, many people with the condition have a normal lifespan.
Can CFC Syndrome Be Prevented?
Because the condition occurs randomly, there is no way to prevent the mutation that leads to CFC syndrome.
How can families live well with cardiofaciocutaneous (CFC) syndrome?
If your child has CFC syndrome, consider asking your healthcare provider the following questions:
Question | Why it matters |
|---|---|
Could this be Costello or Noonan syndrome instead? | The conditions look similar but have different mutations |
Was the genetic mutation inherited or spontaneous? | Affects family planning and understanding of risk |
Does my child have a heart defect? | Heart problems are usually present and need monitoring |
Does my child have excess fluid in their brain? | Hydrocephalus needs timely treatment |
Will my child have seizures? | Seizures can be controlled with medication |
Is the condition affecting my child’s vision? | Vision needs may require glasses or surgery |
Will my child need surgery or medications? | Helps you plan for care |
How can we make sure my child gets the nutrition they need? | Feeding and growth problems are common |
Are there any signs or symptoms I should call you about? | Helps you catch problems early |
How severe will the intellectual disability be? | Guides education and therapy planning |
What specialists should we see and how often? | Coordinates the care team |
Are there any support groups that can help us cope? | Connects you with other parents |
Do you recommend genetic counseling? | Helps the family understand the genetics |
A note of comfort: You will likely have a lot of feelings when you first hear that your baby has a genetic disorder like cardiofaciocutaneous (CFC) syndrome. The journey to diagnosis can feel like a flurry of appointments — and, depending on what support your child needs, your days may always be busy. But it is important to make time for yourself, to try to manage your stress. Look for ways to connect with other parents of children with rare conditions. There are lots of communities online, and your child’s healthcare providers may know of connections as well.
Conclusion
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder — estimated at about 1 in 810,000 births — that affects the heart, face, skin and hair, and development. It belongs to the RASopathy family of conditions, caused by mutations in the BRAF, MAP2K1/MAP2K2, or rarely the KRAS gene. Most cases occur randomly and are not inherited.
Symptoms vary widely from child to child: nearly all have distinctive skin and hair changes and facial features, most have congenital heart defects, and many experience developmental delays, seizures, feeding trouble, and vision problems. There is no cure, but a coordinated team of specialists — from cardiologists and neurologists to physical and speech therapists — manages each child’s individual needs. With proper diagnosis and treatment, many people with CFC syndrome have a normal lifespan.
Frequently Asked Questions
What is cardiofaciocutaneous (CFC) syndrome?
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder that affects many body parts — especially the heart (cardio-), face (facio-), and skin and hair (cutaneous). It also causes developmental delays, intellectual disability, and growth problems.
How rare is CFC syndrome?
Very rare — some reports estimate it occurs in 1 of every 810,000 births, with only a few hundred cases reported in the medical literature. Scientists believe the real number is higher because mild cases may go undiagnosed.
What is a RASopathy?
RASopathies are a group of genetic conditions involving the RAS pathway — the system your body’s cells use to communicate with each other. CFC syndrome is one type of RASopathy.
What genes cause CFC syndrome?
Mutations in the BRAF gene (most common), the MAP2K1 and MAP2K2 genes (second most common), or rarely the KRAS gene. These genes make proteins important to cell communication along the RAS/MAPK pathway.
Is CFC syndrome inherited?
Most cases are not inherited — the mutation usually occurs spontaneously (randomly) during fetal development, and most people with the disorder have no family history. Rarely, it can be passed down as an autosomal dominant condition, meaning only one copy of the mutated gene is needed.
What are the main symptoms of CFC syndrome?
Symptoms vary widely but commonly include congenital heart defects, dry rough skin, sparse curly hair, distinctive facial features (broad long face, drooping eyelids, large head), developmental delays, seizures, feeding difficulty, failure to thrive, hydrocephalus, vision problems, and low muscle tone.
How does CFC syndrome affect the heart?
Most people are born with a congenital heart defect, which may include an abnormal heart valve, a heart murmur, a hole between the heart chambers (ventricular or atrial septal defect), or weak heart muscle (hypertrophic cardiomyopathy).
How does CFC syndrome affect skin and hair?
Almost everyone has dry, rough skin; dark moles; sparse or missing eyelashes and eyebrows; sparse, brittle, dry, curly hair; small bumps on the arms, legs, and face (keratosis pilaris); and wrinkled palms and soles.
How is CFC syndrome diagnosed?
Sometimes before birth on prenatal ultrasound (extra amniotic fluid or a larger-than-expected head and body). Most cases are diagnosed in infancy using EKG or echocardiogram, molecular genetic testing (blood or cheek swab), X-ray, CT, MRI or ultrasound, stereoelectroencephalography, and vision tests such as ophthalmoscopy.
Is CFC syndrome the same as Costello or Noonan syndrome?
No. The three look similar, especially in infants, but are caused by different genetic mutations. Unlike CFC syndrome, Costello syndrome increases a person’s chances of developing cancer.
Is there a cure for CFC syndrome?
No. Treatment focuses on managing symptoms through a team of specialists.
What does treatment for CFC syndrome involve?
Depending on individual needs, treatment may include antibiotics, anticonvulsants, feeding tubes, glasses or eye surgery, high-calorie foods, skin lotions, heart and digestive medications, growth hormone, a brain shunt for hydrocephalus, heart surgery, and cardiac procedures for an abnormal pulmonary valve.
What specialists does a child with CFC syndrome need?
Often a cardiologist, dermatologist, endocrinologist, gastroenterologist, geneticist, neurologist, occupational therapist, ophthalmologist, pediatrician, physical therapist, radiologist, and speech therapist.
What is the outlook for CFC syndrome?
Life expectancy depends on how severe the symptoms are. With proper diagnosis and treatment, many people with the condition have a normal lifespan.
Can CFC syndrome be prevented?
No. Because the mutation occurs randomly, there is no way to prevent it.
Related Reading
References
Armour CM, Allanson JE. Further delineation of cardio-facio-cutaneous syndrome: clinical features of 38 individuals with proven mutations. Journal of Medical Genetics. 2008;45(4):249-254. PMID 18039946. https://doi.org/10.1136/jmg.2007.054460
Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications of cardio-facio-cutaneous syndrome. Developmental Medicine & Child Neurology. 2007;49(12):894-899. PMID 18039235. https://doi.org/10.1111/j.1469-8749.2007.00894.x
Narumi Y, Aoki Y, Niihori T, et al. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome. American Journal of Medical Genetics Part A. 2007;143A(8):799-807. PMID 17366577. https://doi.org/10.1002/ajmg.a.31658
Cleveland Clinic. Cardiofaciocutaneous Syndrome (CFC Syndrome). Medically reviewed; last updated February 19, 2024. https://my.clevelandclinic.org/health/diseases/cardiofaciocutaneous-syndrome
U.S. National Library of Medicine, MedlinePlus Genetics. Cardiofaciocutaneous syndrome. Last updated March 28, 2022. https://medlineplus.gov/genetics/condition/cardiofaciocutaneous-syndrome/
National Organization for Rare Disorders (NORD). Cardiofaciocutaneous Syndrome. Last updated June 27, 2017. https://rarediseases.org/rare-diseases/cardiofaciocutaneous-syndrome/
Pierpont ME, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014;134(4):e1149-e1162. PMID 25180280. https://doi.org/10.1542/peds.2013-3189
Roberts A, Allanson J, Jadico SK, et al. The cardiofaciocutaneous syndrome. Journal of Medical Genetics. 2006;43(11):833-842. PMID 16825433. https://doi.org/10.1136/jmg.2006.042796
Scorrano G, David E, Calì E, et al. The cardiofaciocutaneous syndrome: from genetics to prognostic-therapeutic implications. Genes. 2023;14(12):2111. PMID 38136934. https://doi.org/10.3390/genes14122111
Medical disclaimer
This article is for informational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay seeking it because of something you have read on Rinnit.
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