Rare Pulmonology News

Disease Profile

Cardiofaciocutaneous syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

CFC syndrome; Congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure; Cardio-facio-cutaneous syndrome

Categories

Congenital and Genetic Diseases; Heart Diseases; Nervous System Diseases;

Summary

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 MAP2K1MAP2K2 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]

Symptoms

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.

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
Hole in heart wall separating two upper heart chambers
An opening in the wall separating the top two chambers of the heart

[ 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 retardation
Mental-retardation
Mental retardation, nonspecific
Mental deficiency

[ 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
Flat nasal bridge
Flat bridge of nose
Depressed bridge of nose
Low nasal root
Flattened nasal bridge
Flat, nasal bridge
Low nasal bridge

[ 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
Widely spaced eyes
Wide-set 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
Large head
Increased size of skull
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
Slo

Diagnosis

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.

    Treatment

    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]

    Organizations

    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

      Organizations Providing General Support

        Learn more

        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.

            References

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

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