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- The neuro-cardio-facial-cutaneous syndrome (NCFCS) concept was recently established in order to group a number of hereditary disorders characterized by a variable degree of growth and mental retardation, cardiac defects, dysmorphic facial features and skin abnormalities, and having a common background, germline mutations in genes of the RAS-MAPKinase pathway.
Author: Carmen Vulpoi, Mihaela Anton, Ion Poeata, Jeanina Idriceanu, Cristina RusuPublish Year: 2013www.ncbi.nlm.nih.gov/pmc/articles/PMC3850265/ - People also ask
Cardiofaciocutaneous Syndrome - Symptoms, Causes, …
There is some form of cognitive or neurologic delay in nearly all patients with CFC syndrome. Most individuals fall in the range of moderate intellectual disability. Global developmental delay including gross motor and language delay is very common. Autism and other sensory behavioral issues have been reported … See more
Most individuals are initially referred because of feeding difficulties (poor suck) and failure to thrive. Later, cognitive developmental delay and other clinical manifestations may be observed. Severe feeding problems manifest as gastroesophageal … See more
Symptoms affecting the eyes can effect both their appearance: ocular hypertelorism (increased distance between eyes), … See more
Cardiofaciocutaneous Syndrome (CFC Syndrome): Symptoms
WEBFeb 19, 2024 · Cardiofaciocutaneous (CFC) syndrome is a genetic disorder that affects many body parts, especially your heart (cardio-), face (facio-), and skin and hair …
The Cardiofaciocutaneous Syndrome: From Genetics to …
WEBNov 22, 2023 · Cardiofaciocutaneous (CFC) syndrome is one of the rarest RASopathies characterized by multiple congenital ectodermal, cardiac and craniofacial abnormalities …
- DOI: 10.3390/genes14122111
- Published: 2023/12
- Publication: Genes (Basel). 2023 Dec; 14(12): 2111.
Cardiofaciocutaneous Syndrome - GeneReviews®
WEBJan 18, 2007 · Cardiofaciocutaneous (CFC) syndrome is characterized by cardiac abnormalities (pulmonic stenosis and other valve dysplasias, septal defects, hypertrophic cardiomyopathy, rhythm disturbances), …
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, …
WEBCFC is genetically heterogeneous and caused by gene mutations in the Ras/mitogen-activated protein kinase pathway. The major features of CFC include characteristic …
Cardiofaciocutaneous syndrome: MedlinePlus Genetics
WEBCardiofaciocutaneous 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 …
Cardiofaciocutaneous Syndrome | Issues, Diagnosis & Treatment
WEBCommon features of CFC syndrome include congenital heart disease, characteristic facial features and skin abnormalities. Almost everyone with CFC syndrome will have some …
What's new in the neuro-cardio-facial-cutaneous syndromes?
WEBRecently, germline mutations in genes coding for different components of the RAS signalling cascade have been recognized as the cause of several phenotypically overlapping …
Cardio-Facio-Cutaneous Syndrome: Clinical Features, Diagnosis, …
WEBOct 1, 2014 · Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most …
Orphanet: Cardiofaciocutaneous syndrome
WEBA rare, multiple congenital anomalies syndrome characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly …
[Neuro-cardio-facial-cutaneous syndrome] - PubMed
WEBThe concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that include a …
WEBThe neuro-cardio-facial-cutaneous syndrome (NCFCS) concept was recently established in order to group a num-ber of hereditary disorders characterized by a variable degree of …
Cardio-facio-cutaneous syndrome: clinical features, diagnosis, …
WEBCardio-facio-cutaneous syndrome (CFC) is one of the RASopathies that bears many clinical features in common with the other syndromes in this group, most notably …
The neuro-cardio-facial-cutaneous syndrome – unity in diversity
WEBOct 3, 2013 · The neuro-cardio-facial-cutaneous syndrome (NCFCS) concept was recently established in order to group a number of hereditary disorders characterized by …
Stops along the RAS pathway in human genetic disease - Nature
WEBMar 1, 2006 · Mutations in components of the RAS-MAPK pathway provide a unifying mechanism for several phenotypically overlapping, yet clinically distinct human 'neuro …
What's new in the neuro-cardio-facial-cutaneous syndromes?
WEBRecently, germline mutations in genes coding for different components of the RAS signalling cascade have been recognized as the cause of several phenotypically overlapping …
What’s new in the neuro-cardio-facial-cutaneous syndromes?
WEBJul 5, 2007 · Recently, germline mutations in genes coding for different components of the RAS signalling cascade have been recognized as the cause of several phenotypically …
Category:Neuro-cardio-facial-cutaneous syndromes - Wikipedia
WEBNeuro-cardio-facial-cutaneous-syndromes (NCFC), (also referred to as neuro-craniofacial-cardiac syndromes) is a group of developmental disorders with a genetic …
RASopathy - Wikipedia
WEBThe RASopathies are a group of developmental syndromes caused by germline mutations in genes belonging to the Ras/MAPK pathway. Common features include intellectual …
WEBeferred to as the neuro-cardio-facial-cutaneous syndromes. Neurofibromatosis type 1, Noonan, LEOPARD, Costello and cardiofaciocutaneous syndromes all present with …
[Neuro-cardio-facial-cutaneous syndrome]. - Abstract - Europe PMC
WEBMay 5, 2011 · The concept of neuro-cardio-facio-cutaneous (NCFC) syndrome has recently been formulated in order to bring together a number of hereditary diseases that …
Craniofacial and cutaneous findings in Noonan, Costello and …
WEBJul 19, 2018 · The neuro-cardio-facial-cutaneous (NCFC) syndromes belong to a group of hereditary diseases that present a number of phenotypic features of a varying degree. …
Neurological complications of cardio-facio-cutaneous syndrome
WEBCardio-facio-cutaneous syndrome (CFC) is a multiple congenital anomaly disorder characterized by craniofacial dysmorphia, ectodermal abnormalities, congenital heart …
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