What is cfc syndrome

Carey, J. Editor's note: regarding correspondence on CFC syndrome and interstitial 12q deletions. Chrzanowska, K. Cardio-facio-cutaneous CFC syndrome: report of a new patient. Corsello, G. Cardiofaciocutaneous syndrome: notes on clinical variability and natural history. Letter Am. Estep, A. HRAS mutation in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

Fryer, A. The cardio-facio-cutaneous CFC syndrome and Noonan syndrome: are they the same? Garnett, M. Guilty as charged: B-RAF is a human oncogene. Cancer Cell 6: , Ghezzi, M. Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases.

Goodwin, A. Craniofacial and dental development in cardio-facio-cutaneous syndrome: the importance of Ras signaling homeostasis. Grebe, T. Neurologic and gastrointestinal dysfunction in cardio-facio-cutaneous syndrome: identification of a severe phenotype. Gripp, K. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome.

Gross-Tsur, V. Cardio-facio cutaneous syndrome: neurological manifestations. Inoue, S. New BRAF knockin mice provide a pathogenetic mechanism of developmental defects and a therapeutic approach in cardio-facio-cutaneous syndrome. Ion, A. Kavamura, M.

CFC index for the diagnosis of cardiofaciocutaneous syndrome. Krajewska-Walasek, M. The cardio-facio-cutaneous CFC syndrome: two possible new cases and review of the literature.

Lecora, M. CFC syndrome: report of familial cases. Letter Clin. Legius, E. Leichtman, L. Are cardio-facio-cutaneous syndrome and Noonan syndrome distinct? A case of CFC offspring of a mother with Noonan syndrome. Linden, H. Cardiofaciocutaneous syndrome in a mother and two sons with a MEK2 mutation. Manoukian, S. Cardio-facio-cutaneous CFC syndrome: report of an adult without mental retardation. Matsuda, Y. Cardio-facio-cutaneous CFC syndrome: report of two patients without hyperkeratotic skin lesions.

McGaughran, J. Cardio-facio-cutaneous syndrome: first presentation in a year-old woman. Mucklow, E. A case of cardio-facio-cutaneous syndrome. Musante, L. Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Note: Erratum: Europ. Navaratnam, A. Ulerythema ophryogenes with mental retardation. Neri, G. No reason yet to change diagnostic criteria for Noonan, Costello and cardio-facio-cutaneous syndromes.

CFC syndrome. The Noonan-CFC controversy. Editorial Am. Feeding difficulties, leading to failure to thrive, gastroesophageal reflux GER , vomiting and constipation often appear in infancy but improve in childhood. Growth failure leading to short stature is sometimes due to a growth hormone deficiency. Severe eczematous lesions are frequently seen. Hypertelorism, strabismus, nystagmus, optic nerve hypoplasia and astigmatism can lead to decreased vision and acuity.

Recurrent otitis media has also been reported. Neurological abnormalities hypotonia, learning difficulties and developmental delay motor and speech, mainly are seen in all children. This signaling pathway participates in the regulation of cell differentiation, proliferation, migration, and apoptosis. Clinical diagnosis is based mainly on the presence and frequency of the characteristic clinical traits and the sporadic occurrence of the disease.

Molecular genetic testing, preferably multigene panel testing, including all known RASopathy genes, is preferable. If unavailable, sequential gene testing is recommended, starting from BRAF , exons 6, 12 and 11 being the most commonly mutated. CFC syndrome, unlike CS, does not appear to have an increased risk of malignancies.

All bona fide cases reported to date are due to de novo dominant mutations. Due to sporadic nature of the disease, the sibling recurrence risk is very small. Management requires a multidisciplinary team.

With CFC syndrome, a person has a change in one copy of this gene. Males and females are equally affected. Typically, the mutation is a new change that happens and there is no family history of the condition. Most people with CFC syndrome do not go on to have children. If someone with CFC syndrome were to have children, they would have a 50 percent, or a one in two chance, of passing the condition to each of their children. There is no cure for CFC syndrome, but there are several treatments and therapies available.

Each treatment plan is tailored to the patient, based on their medical issues. Learn more about genetics and the rasopathies, plus resources, what to expect in the Rasopathy Clinic and a glossary.

All rights reserved. Health Library. Cardiofaciocutaneous Syndrome Cardiofacialcutaneous CFC syndrome is a rare genetic condition that affects people worldwide. Low or weak muscle tone. Thickening of palms and soles. Narrowing of pulmonic valve. Decreased body height. Small stature. Flattened bony protrusion above eyes. Collection of dilated blood vessels that forms mass. Undescended testes. Undescended testis.

Deep palm line. Flat nasal bridge. Flat bridge of nose. Depressed bridge of nose. Low nasal root. Flattened nasal bridge. Flat, nasal bridge. Low nasal bridge. Downward slanting of the opening between the eyelids. Poor fingernail formation. Eye folds. Prominent eye folds. Elevated palate. Increased palatal height. Hyperelastic skin. Skin hyperelasticity. Stretchable skin. Widely spaced eyes. Wide-set eyes. Cheekbone underdevelopment. Decreased size of cheekbone.

Underdevelopment of cheekbone. Low hairline at back of neck. Large head. Increased size of skull. Large head circumference. Large ears. Close sighted. Near sighted. Near sightedness. Involuntary, rapid, rhythmic eye movements.

Funnel chest. Premature delivery of affected infants. Preterm delivery. Drooping upper eyelid. Decreased length of neck. Decreased length of nose. Shortened nose. Slow growing hair. Slow rate of hair growth. Slow speed of hair growth. Squint eyes. Neck webbing. Decrease in size of the outer layer of the brain due to loss of brain cells. Outward turned elbows. Difficulty articulating speech. Knock knees. Too much cerebrospinal fluid in the brain.

Enlarged and thickened heart muscle. Swelling caused by excess lymph fluid under skin. Loose redundant skin. Redundant skin folds. Sagging, redundant skin. Failure of development of eyebrows. Long, narrow head. Tall and narrow skull. Faltering weight. Weight faltering. Decreased muscle tone.

Low muscle tone. Hearing defect. Excessive sweating. Increased sweating. Profuse sweating. Sweating profusely. Sweating, increased. Chicken skin. Fleshy earlobe. Fleshy earlobes. Prominent ear lobes.