What are the symptoms of CFC?
What are the symptoms of CFC?
Most children with CFC syndrome are born with some unusual facial features, including:
- a high forehead.
- very thin or missing eyebrows.
- wide-set eyes.
- eyes that don’t line up or one eye that wanders (strabismus)
- back-and-forth eye movements (nystagmus)
- drooping eyelids.
- a small chin.
- a short nose.
What causes CFC syndrome?
CFC syndrome is a dominant disorder often caused by de novo (new) mutations in one of four genes called BRAF, MAP2K1 (MEK1), MAP2K2 (MEK2), and KRAS. Some affected individuals do not have a mutation in one of these genes, suggesting that other genes are also associated with CFC syndrome.
How many people in the world have CFC syndrome?
What is Cardiofaciocutaneous Syndrome? Cardiofacialcutaneous (CFC) syndrome is a rare genetic condition that affects 200-300 people worldwide.
What is the most common congenital heart disease in this genetic disorder?
Down’s syndrome is the most widely-known genetic condition that can cause congenital heart disease. Children with Down’s syndrome are born with a range of disabilities as the result of a genetic abnormality. About half of all children with Down’s syndrome have congenital heart disease.
What are the 5 most common heart disorders?
A List of Cardiovascular Diseases: The 5 Most Common
- Heart Attack. A heart attack, or myocardial infarction, usually tops the list of cardiovascular diseases in the United States — statistically and anecdotally.
- Stroke.
- Heart Failure.
- Arrhythmia.
- Heart Valve Complications.
What is Meckel Gruber syndrome?
Meckel-Gruber syndrome is a rare autosomal recessive lethal malformation characterized by typical manifestations of occipital encephalocele, bilateral polycystic kidneys and post axial polydactyly. The worldwide incidence varies from 1 in 13,250 to 1 in 140,000 live births.
What is Nager Miller syndrome?
Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia ). They often have an opening in the roof of the mouth called a cleft palate .