2024年2月19日 · Cardiofaciocutaneous (CFC) syndrome is a genetic disorder that affects many body parts, especially your heart (cardio-), face (facio-), and skin and hair (cutaneous). The condition also causes developmental delays, intellectual disability and growth problems.

Cardiofaciocutaneous (CFC) syndrome is a disorder that affects many parts of the body, particularly the heart, face, skin, and hair. People with this condition also have developmental delay and intellectual disability, usually ranging from moderate to severe.

Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). Explore symptoms, inheritance, genetics of this condition.

2007年1月18日 · Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), distinctive craniofacial appearance, and cutaneous abnormalities (including xerosis, hyperkeratosis, ichthyosis, keratosis pilaris, ulerythema …

Cardiofaciocutaneous (CFC) syndrome is an extremely rare genetic disorder, and is one of the RASopathies. It was first described in 1986. [2] [3] [4] It is characterized by the following: Distinctive facial appearance; Unusually sparse, brittle, curly scalp hair

2017年6月27日 · Clinical and Molecular Overview of Noonan Syndrome, Costello Syndrome and Cardio-facio-cutaneous Syndrome: Dysregulation of the Ras/MAPK Pathway. Expert Review in Molecular Medicine. 2008;10:e37 Yoon G, J Rosenberg, S Blaser, KA Rauen.

What is Cardiofaciocutaneous Syndrome? Cardiofacialcutaneous (CFC) syndrome is a rare genetic condition that affects 200-300 people worldwide. Common features of CFC syndrome include congenital heart disease, characteristic facial features and skin abnormalities.

The cardiofaciocutaneous (CFC) syndrome (OMIM 115150) is a syndrome where patients have multiple congenital anomalies or mental retardation, failure to thrive, psychomotor delay, a characteristic face, congenital heart defects, and abnormalities of the skin, eyes, gastrointestinal tract and central nervous system.

CFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability.

Cardiofaciocutaneous syndrome is a disorder that affects many parts of the body, particularly the heart (cardio-), facial features (facio-), and the skin and hair (cutaneous). People with this condition also have delayed development and intellectual disability, usually ranging from moderate to severe. Heart defects occur in most people with ...