It is a rare genetic disorder that usually affects many parts of the body especially the heart, face, skin and hair.
It belongs to a group of related conditions called RASopathies.
Cause :
It is mainly caused by the mutation in the BRAF gene. However, mutations in the MAP2K1, MAP2K2 or KRAS gene can also serve as causative factors.
Signs and symptoms :
Unusually sparse, brittle curly hair
Relative macrocephaly
Prominent forehead
Bi-temporal narrowing
Intellectual disability
Heart defects – congenital or acquired
Short stature
Skin abnormalities
Ocular hypertelorism
Gastrointestinal reflux syndrome, aspiration
Diagnosis : It is diagnosed in infancy through clinical examination, characteristic physical findings and specialized tests like x-ray, electrocardiography, echocardiography or cardiac cathertization.
Treatment :
Symptomatic therapy is provided to relieve the symptoms.
Xerosis associated with CFC syndrome is treated by use of hydrating lotions.
Corrective glasses, ocular lens are used for correcting ocular abnormalities.
Use of medications like antibiotics, anticonvulsant drugs etc is optimized and given as and when necessary.
Admin_NHT Staff asked 5 years ago