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Disease Profile
Cardiofaciocutaneous syndrome
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
Not applicable
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)
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 |
0001263 | |
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 |
Low or weak muscle tone
|
0001252 |
Palmoplantar keratoderma |
Thickening of palms and soles
|
0000982 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
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 |
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 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Premature birth |
Premature delivery of affected infants
Preterm delivery
[ more ] |
0001622 |
Drooping upper eyelid
|
0000508 | |
0002650 | ||
Short neck |
Decreased length of neck
|
0000470 |
Short nose |
Decreased length of nose
Shortened nose
[ more ] |
0003196 |
Slow-growing hair |
Slo
DiagnosisMaking 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
OrganizationsSupport 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 moreThese 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
In-Depth Information
References
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