Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome
Classification and external resources
Specialty	medical genetics
ICD-10	Q87.8
OMIM	115150
DiseasesDB	30111
MeSH	C535579
[]

Cardiofaciocutaneous Syndrome (CFC syndrome) is an extremely rare and serious genetic disorder.

It is characterized by the following:

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.

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 to each other. 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 each gene occupies.

Thus, any activating mutation downstream of SOS1 may be subject to less regulation that may mitigate the consequence of such mutations giving rise to the phenotypic differences seen between these syndromes.

...
Wikipedia