A range of skin abnormalities from dermatitis to thick, scaly skin over the entire body (generalized ichthyosis)
Heart malformations in over 75% of patients[4] (congenital or appearing later), especially an obstruction of the normal flow of blood from the lower right ventricle of the heart to the lungs (valvar pulmonary stenosis)
Individuals with the disorder usually have distinctive malformations of the craniofacial area including an unusually large head (macrocephaly), prominent forehead, and abnormal narrowing of both sides of the forehead (bitemporal constriction); The nose can be upturned and short with a low nasal bridge; and large ears that are abnormally rotated toward the back of the head. In many cases, affected individuals also have downward slanting eyelid folds, widely spaced eyes, drooping of the upper eyelids, inward deviation of the eyes, and other eye abnormalities including absent eyebrows and eyelashes.[citation needed]
Gastrointestinal systemedit
This section is empty. You can help by adding to it. (July 2023)
Geneticedit
Costello and Noonan syndrome are similar to CFC and their phenotypic overlap may be due to the biochemical relationship of the genes mutated in each syndrome. Genes that are mutated in all three of these syndromes encode proteins that function in the MAP kinase pathway.
Mutations that cause CFC are found in the KRAS, BRAF, MEK1, and MEK2 genes.
Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1.
The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway occupied by the affected genes.
Shp2, the protein product of the PTPN11 gene, appears to regulate the MAP kinase pathway at or above the level of SOS1.
SOS1 in turn regulates the activities of RAS, RAF, MEK, ERK, and p90RSK.
SOS1 has been demonstrated to be a target of negative feedback by ERK and p90RSK.
Thus, any activating mutation downstream of SOS1 may be subject to less regulation that might mitigate the consequence of such mutations, giving rise to the phenotypic differences seen between these syndromes.[5]
Diagnosisedit
This section is empty. You can help by adding to it. (December 2017)
Managementedit
This section is empty. You can help by adding to it. (December 2017)
Referencesedit
^RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Cardiofaciocutaneous syndrome". www.orpha.net. Retrieved 27 December 2017.{{cite web}}: CS1 maint: numeric names: authors list (link)
^James, William; Berger, Timothy; Elston, Dirk (2005). Andrews' Diseases of the Skin: Clinical Dermatology (10th ed.). Saunders. p. 550. ISBN978-0-7216-2921-6.
^Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 513. ISBN978-0-07-138076-8.
^ abcdeMagoulas, Pilar L.; Fagan, Sarah; Rauen, Katherine A. "Rare Disease Database: Cardiofaciocutaneous Syndrome". National Organization for Rare Disorders. Retrieved 27 July 2021.
^Bentires-Alj M, Kontaridis MI, Neel BG (March 2006). "Stops along the RAS pathway in human genetic disease". Nat. Med. 12 (3): 283–5. doi:10.1038/nm0306-283. PMID 16520774. S2CID 6989331.
External linksedit
CFC Syndrome at Genetics Home Reference
GeneReview/UW/NIH entry on CFC
January 01, 1970
cardiofaciocutaneous, syndrome, cardiofaciocutaneous, syndrome, extremely, rare, genetic, disorder, rasopathies, first, described, 1986, inherited, autosomal, dominant, manner, specialtymedical, genetics, characterized, following, distinctive, facial, appearan. Cardiofaciocutaneous CFC syndrome is an extremely rare genetic disorder and is one of the RASopathies It was first described in 1986 2 3 4 Cardiofaciocutaneous syndromeCardiofaciocutaneous syndrome is inherited in an autosomal dominant manner 1 SpecialtyMedical genetics It is characterized by the following Distinctive facial appearance Unusually sparse brittle curly scalp hair A range of skin abnormalities from dermatitis to thick scaly skin over the entire body generalized ichthyosis Heart malformations in over 75 of patients 4 congenital or appearing later especially an obstruction of the normal flow of blood from the lower right ventricle of the heart to the lungs valvar pulmonary stenosis Growth delays Feeding problems associated with severe gastroesophageal reflux disease GERD 4 Foot abnormalities extra toe or fusion of two or more toes Intellectual disability 4 Failure to thrive 4 Contents 1 Presentation 1 1 Head 1 2 Gastrointestinal system 2 Genetic 3 Diagnosis 4 Management 5 References 6 External linksPresentation editHead edit Individuals with the disorder usually have distinctive malformations of the craniofacial area including an unusually large head macrocephaly prominent forehead and abnormal narrowing of both sides of the forehead bitemporal constriction The nose can be upturned and short with a low nasal bridge and large ears that are abnormally rotated toward the back of the head In many cases affected individuals also have downward slanting eyelid folds widely spaced eyes drooping of the upper eyelids inward deviation of the eyes and other eye abnormalities including absent eyebrows and eyelashes citation needed Gastrointestinal system edit This section is empty You can help by adding to it July 2023 Genetic editCostello and Noonan syndrome are similar to CFC and their phenotypic overlap may be due to the biochemical relationship of the genes mutated in each syndrome Genes that are mutated in all three of these syndromes encode proteins that function in the MAP kinase pathway Mutations that cause CFC are found in the KRAS BRAF MEK1 and MEK2 genes Costello syndrome is caused by mutations in HRAS Mutations that cause Noonan syndrome have been found in PTPN11 and SOS1 The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway occupied by the affected genes Shp2 the protein product of the PTPN11 gene appears to regulate the MAP kinase pathway at or above the level of SOS1 SOS1 in turn regulates the activities of RAS RAF MEK ERK and p90RSK SOS1 has been demonstrated to be a target of negative feedback by ERK and p90RSK Thus any activating mutation downstream of SOS1 may be subject to less regulation that might mitigate the consequence of such mutations giving rise to the phenotypic differences seen between these syndromes 5 Diagnosis editThis section is empty You can help by adding to it December 2017 Management editThis section is empty You can help by adding to it December 2017 References edit RESERVED INSERM US14 ALL RIGHTS Orphanet Cardiofaciocutaneous syndrome www orpha net Retrieved 27 December 2017 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link James William Berger Timothy Elston Dirk 2005 Andrews Diseases of the Skin Clinical Dermatology 10th ed Saunders p 550 ISBN 978 0 7216 2921 6 Freedberg et al 2003 Fitzpatrick s Dermatology in General Medicine 6th ed McGraw Hill p 513 ISBN 978 0 07 138076 8 a b c d e Magoulas Pilar L Fagan Sarah Rauen Katherine A Rare Disease Database Cardiofaciocutaneous Syndrome National Organization for Rare Disorders Retrieved 27 July 2021 Bentires Alj M Kontaridis MI Neel BG March 2006 Stops along the RAS pathway in human genetic disease Nat Med 12 3 283 5 doi 10 1038 nm0306 283 PMID 16520774 S2CID 6989331 External links editCFC Syndrome at Genetics Home Reference GeneReview UW NIH entry on CFC Retrieved from https en wikipedia org w index php title Cardiofaciocutaneous syndrome amp oldid 1214471344, wikipedia, wiki, book, books, library,
