18 янв. 2007 г. · Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic ...

Children with CFC syndrome. A. Three young children with BRAF pathogenic variants. Ages are 2.5, 2, and 2 years. B. Two boys, age 12 and eight years, ...

28 мар. 2022 г. · Cardiofaciocutaneous syndrome usually results from new gene variants ... GeneReviews(R) [Internet]. Seattle (WA): University of Washington ...

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 ...

A rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities.

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, ...

An affected person has a 50% chance of passing the altered gene to each child. The mutation genes involved in CFC syndrome are BRAF (7q34) in up to 75% of the ...

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder in which individuals have characteristic craniofacial features, ...

Seizures. Nearly 50% of individuals with CFC and a pathogenic variant in one of its associated genes have a seizure disorder. Most seizures begin in infancy or ...

Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. Presentation · Head · Genetic