National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cardiofaciocutaneous syndrome

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Other Names:
CFC syndrome; Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure; Cardio-facio-cutaneous syndrome
Categories:
This disease is grouped under:
Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe. The signs and symptoms of CFC syndrome overlap significantly with those of two other conditions, Costello syndrome and Noonan syndrome. These syndromes belong to a group of related conditions called the RASopathies, which are distinguished by their genetic causes and specific pattern of features. It can sometimes be hard to tell these conditions apart in infancy. CFC syndrome is usually caused by a mutation in the BRAF gene, but can also be due to a mutation in the MAP2K1, MAP2K2 or KRAS gene. It is an autosomal dominant condition, but most cases are not inherited, due to a new mutation that occurs for the first time in an affected person.[1] Treatment depends on the symptoms in each person and may include surgery for heart defects.[2]
Last updated: 5/6/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal heart valve morphology 0001654
Abnormality of vision
Abnormality of sight
Vision issue
[ more ] 		0000504
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Aplasia/Hypoplasia of the eyebrow
Absence of eyebrow
Lack of eyebrow
Missing eyebrow
[ more ] 		0100840
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Brittle hair 0002299
Coarse facial features
Coarse facial appearance
0000280
Dry skin 0000958
Excessive wrinkled skin 0007392
Failure to thrive in infancy
Faltering weight in infancy
Weight faltering in infancy
[ more ] 		0001531
Feeding difficulties in infancy 0008872
Fine hair
Fine hair shaft
Fine hair texture
Thin hair shaft
Thin hair texture
[ more ] 		0002213
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] 		0000293
Global developmental delay 0001263
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Long palpebral fissure
Broad opening between the eyelids
Long opening between the eyelids
Wide opening between the eyelids
[ more ] 		0000637
Muscular hypotonia
Low or weak muscle tone
0001252
Palmoplantar keratoderma
Thickening of palms and soles
0000982
Pulmonic stenosis
Narrowing of pulmonic valve
0001642
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Thickened helices 0000391
Underdeveloped supraorbital ridges
Flattened bony protrusion above eyes
0009891
30%-79% of people have these symptoms
Abnormality of the ulna 0002997
Biparietal narrowing 0004422
Cavernous hemangioma
Collection of dilated blood vessels that forms mass
0001048
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Deep palmar crease
Deep palm line
0006191
Depressed nasal bridge
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] 		0005280
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Dystrophic fingernails
Poor fingernail formation
0008391
EEG abnormality 0002353
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Frontal bossing 0002007
Generalized hyperpigmentation 0007440
High forehead 0000348
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Hypoplasia of the zygomatic bone
Cheekbone underdevelopment
Decreased size of cheekbone
Underdevelopment of cheekbone
[ more ] 		0010669
Ichthyosis 0008064
Long philtrum 0000343
Low posterior hairline
Low hairline at back of neck
0002162
Low-set, posteriorly rotated ears 0000368
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Macrotia
Large ears
0000400
Multiple cafe-au-lait spots 0007565
Multiple lentigines 0001003
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Pectus excavatum
Funnel chest
0000767
Premature birth
Premature delivery of affected infants
Preterm delivery
[ more ] 		0001622
Ptosis
Drooping upper eyelid
0000508
Scoliosis 0002650
Short neck
Decreased length of neck
0000470
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Slow-growing hair
Slow growing hair
Slow rate of hair growth
Slow speed of hair growth
[ more ] 		0002217
Sparse hair 0008070
Sparse or absent eyelashes 0200102
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Webbed neck
Neck webbing
0000465
5%-29% of people have these symptoms
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cubitus valgus
Outward turned elbows
0002967
Dysarthria
Difficulty articulating speech
0001260
Functional abnormality of the gastrointestinal tract 0012719
Genu valgum
Knock knees
0002857
Hydrocephalus
Too much cerebrospinal fluid in the brain
0000238
Hydronephrosis 0000126
Hypertrophic cardiomyopathy
Enlarged and thickened heart muscle
0001639
Lymphedema
Swelling caused by excess lymph fluid under skin
0001004
Optic atrophy 0000648
Peripheral axonal neuropathy 0003477
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] 		0001582
Submucous cleft hard palate 0000176
Percent of people who have these symptoms is not available through HPO
Abnormality of the dentition
Abnormal dentition
Abnormal teeth
Dental abnormality
[ more ] 		0000164
Absent eyebrow
Failure of development of eyebrows
0002223
Absent eyelashes
Failure of development of eyelashes
0000561
Anterior creases of earlobe
Earlobe crease
0009908
Aplasia/Hypoplasia of the corpus callosum 0007370
Atopic dermatitis 0001047
Autosomal dominant inheritance 0000006
Bulbous nose 0000414
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Congenital onset
Symptoms present at birth
0003577
Constipation 0002019
Curly hair 0002212
Deep philtrum 0002002
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Dental malocclusion
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] 		0000689
Dolichocephaly
Long, narrow head
Tall and narrow skull
[ more ] 		0000268
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hyperextensibility of the finger joints
Finger joint hyperextensibility
Hyperextensible digits
Hyperextensible finger
[ more ] 		0001187
Hyperkeratosis 0000962
Hypertonia 0001276
Hypoplasia of the frontal lobes
Underdeveloped frontal lobe
0007333
Keratosis pilaris 0032152
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Multiple palmar creases
Multiple palm lines
0006114
Multiple plantar creases 0008113
Narrow forehead
Decreased width of the forehead
0000341
Oculomotor apraxia 0000657
Open bite
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] 		0010807
Open mouth
Gaped jawed appearance
Gaped mouthed appearance
Slack jawed appearance
[ more ] 		0000194
Optic nerve dysplasia 0001093
Osteopenia 0000938
Pectus carinatum
Pigeon chest
0000768
Polyhydramnios
High levels of amniotic fluid
0001561
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Progressive visual loss
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] 		0000529
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ] 		0011220
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Relative macrocephaly
Relatively large head
0004482
Seizure 0001250
Splenomegaly
Increased spleen size
0001744
Tongue thrusting 0100703
Vomiting
Throwing up
0002013
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Last updated: 7/1/2020

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Xerosis (dry skin) and pruritus (itching) associated with cardiofaciocutaneous syndrome may be relieved by increasing the amount of moisture in the air or by using hydrating lotions. If signs of infection develop, treatment with antibiotics may be necessary.[2]
Last updated: 6/5/2013

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Cardiofaciocutaneous syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Cardiofaciocutaneous syndrome. Click on the link to view a sample search on this topic.

News

Other Conferences

  • Neurofibromatoses and RASopathies: Their Management, Diagnosis, Current and Future Therapeutic Avenues
    Monday, September 30, 2013 - Tuesday, October 01, 2013
    Location: Radisson Blu Hotel, Cardiff, Wales
    Description: This international meeting will provide a most comprehensive and up to date account of recent developments in this field. Internationally recognized experts from the UK, Europe and the USA will speak on neurofibromatoses and rasopathies. This meeting will be suitable for medical geneticists, oncologists, dermatologists, neurologists, endocrinologists, psychiatrists, molecular and cellular biologists, genetic counsellors and general practitioners.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How might the the itching associated with cardiofaciocutaneous syndrome be treated? See answer

  • How does cardiofaciocutaneous syndrome affect an individual's livelihood? See answer


  1. Cardiofaciocutaneous syndrome. Genetics Home Reference. 2012; http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome.
  2. Rauen KA. Cardiofaciocutaneous Syndrome. GeneReviews. 2016; http://www.ncbi.nlm.nih.gov/books/NBK1186/.