Cardiofaciocutaneous syndrome

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Cardiofaciocutaneous syndrome
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Cardiofaciocutaneous syndrome is inherited in an autosomal dominant manner [1]
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Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. [2] [3] [4]

Contents

It is characterized by the following:

Presentation

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

Genetic

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.

The relative severity of CFC when compared to Noonan syndrome may reflect the position in the biochemical pathway occupied by the affected genes.

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

Management

References

  1. RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Cardiofaciocutaneous syndrome". www.orpha.net. Retrieved 27 December 2017.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. 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.
  3. Freedberg; et al. (2003). Fitzpatrick's Dermatology in General Medicine (6th ed.). McGraw-Hill. p. 513. ISBN   978-0-07-138076-8.
  4. 1 2 3 4 5 Magoulas, Pilar L.; Fagan, Sarah; Rauen, Katherine A. "Rare Disease Database: Cardiofaciocutaneous Syndrome". National Organization for Rare Disorders. Retrieved 27 July 2021.
  5. 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.