Cardiofaciocutaneous Syndrome is an extremely rare and serious genetic condition. more...
Cardiofaciocutaneous (CFC) syndrome is a rare genetic disorder 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 the 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.
Forms of CFC include Costello syndrome and Noonan syndrome.
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