Cardiofaciocutaneous Syndrome

Encyclopedia : C : CA : CAR : Cardiofaciocutaneous Syndrome

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

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 (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)
Delayed growth
Mental retardation
Psychomotor retardation
Foot abnormalities (extra toe or fusion of two or more toes)

Malformations of face and head

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 eye lashes.

Similar syndromes are Costello syndrome and Noonan syndrome.

External links

[CFC Family Network]
[cardiofaciocutaneous (CFC) syndrome] from the United States National Library of Medicine
[CFC Syndrome]
[Health Library - CFC Syndrome]

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