Cardiofaciocutaneous syndrome

A multiple congenital anomaly disorder characterized by a distinctive facies, INTELLECTUAL DISABILITY, and cardiovascular abnormalities that include PULMONIC STENOSIS; ATRIAL SEPTAL DEFECT, and HYPERTROPHIC CARDIOMYOPATHY. Ectodermal abnormalities such as sparse hair, skin lesions, and ICHTHYOSIS may also be present. Usually occurs sporadically, but germline mutations in the BRAF gene have been identified in some patients with CFC1. OMIM: 115150

Also Known As:

Networked: 51 relevant articles (0 outcomes, 5 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Noonan Syndrome (Female Pseudo-Turner Syndrome)
2.	Costello Syndrome
3.	Neurofibromatosis 1 (Neurofibromatosis Type I)
4.	LEOPARD Syndrome (Syndrome, LEOPARD)
5.	Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)

Experts

1.	Rauen, Katherine A: 6 articles (01/2021 - 01/2008)
2.	Zenker, Martin: 3 articles (01/2014 - 10/2007)
3.	Leoni, Chiara: 2 articles (01/2021 - 11/2020)
4.	Onesimo, Roberta: 2 articles (01/2021 - 11/2020)
5.	Tidyman, William E: 2 articles (01/2021 - 05/2011)
6.	Zampino, Giuseppe: 2 articles (01/2021 - 11/2020)
7.	Niemeyer, Charlotte M: 2 articles (09/2010 - 11/2007)
8.	Gripp, Karen W: 2 articles (12/2007 - 07/2007)
9.	Kratz, Christian P: 2 articles (11/2007 - 10/2007)
10.	Antona, Vincenzo: 1 article (05/2022)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Cardiofaciocutaneous syndrome:

1.	Mitogen-Activated Protein KinasesIBA 02/01/2023 - "Cardiofaciocutaneous syndrome is a rare, sporadic disease caused by germline mutations in the Ras/MAPK (mitogen-activated protein kinase) pathway. " 01/01/2021 - "Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder caused by upregulated signaling through the RAS-mitogen-activated protein kinase (MAPK) pathway, mostly resulting from de novo activating BRAF mutations. " 01/01/2021 - "Cardio-facio-cutaneous syndrome (CFC) is one of the RASopathies and is caused by germline mutations that activate the Ras/mitogen-activated protein kinase (MAPK) pathway. " 02/01/2017 - "Mutations in MAP2K1, a gene expressed within the RAS-mitogen activated protein kinase (RAS/MAPK) pathway, are generally associated with the clinical phenotype of cardiofaciocutaneous syndrome. " 06/16/2016 - "Cardiofaciocutaneous syndrome (CFCS) belongs to a group of developmental disorders due to defects in the Ras/Mitogen-Activated Protein Kinase (RAS/MAPK) signaling pathway named RASophaties. "
2.	DNA (Deoxyribonucleic Acid)IBA 02/01/2016 - "Our study was designed to analyze prenatal manifestations in patients affected with cardio-facio-cutaneous syndrome (CFCS), in order to define indications of DNA testing in utero. " 12/13/2016 - "Finally, this second generation approach for noninvasive fetal whole-genome analysis was validated in a pregnancy diagnosed with cardiofaciocutaneous syndrome with maternal plasma DNA sequenced to 195× coverage. " 01/01/2014 - "In 54 patients with autosomal dominant inherited Noonan syndrome, Costello syndrome and cardiofaciocutaneous syndrome the diagnosis was confirmed on DNA level and the biological fitness was estimated for each disorder. "
3.	ras ProteinsIBA 11/01/2007 - "We performed detailed biochemical and functional studies of three mutant K-Ras proteins (P34R, D153V, and F156L) found in individuals with Noonan syndrome and cardiofaciocutaneous syndrome. "
4.	Retinaldehyde (Retinal)IBA 10/16/1996 - "However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found. "
5.	LipidsIBA 09/01/1997 - "Furthermore, we pay attention to syndromes whose description and study are of current importance: cardiofaciocutaneous syndrome, neutral lipids storage disease with ichthyosis, multiple sulphatase deficiency disease and peroxisomal disorders. "
6.	Hormones (Hormone)IBA 01/01/2009 - "In recent years, germline mutations that affect components of the RAS-MAPK (mitogen-activated protein kinase) pathway were shown to be involved in the pathogenesis of NS and four rare syndromes with clinical features overlapping with NS: Leopard syndrome, cardio-facio-cutaneous syndrome, Costello syndrome and neurofibromatosis type 1. Several hormones act through receptors that stimulate the RAS-MAPK pathway, and therefore, NS and related disorders represent a remarkable opportunity to study the implication of the RAS-MAPK pathway in different endocrine systems. "
7.	Mitogen-Activated Protein Kinase Kinases (MEKs)IBA 12/01/2022 - "Cardio-facio-cutaneous syndrome (CFC) (OMIM 115150) is a congenital disease caused by constitutive activation of the Raf/MEK/ERK signaling cascade. " 04/05/2020 - "Mutations in MAP2K1 lead to continuous activation of MEK/ERK signaling pathway, giving rise to cardio-facio-cutaneous syndrome (CFCS). " 03/31/2009 - "Finally, the structure provides for the first time a molecular rationale that explains how mutations in MEK may lead to the cardio-facio-cutaneous syndrome." 02/01/2008 - "Germline mutations of MEK in cardio-facio-cutaneous syndrome are sensitive to MEK and RAF inhibition: implications for therapeutic options." 01/01/2008 - "Biochemical characterization of novel germline BRAF and MEK mutations in cardio-facio-cutaneous syndrome."
8.	Proteins (Proteins, Gene)FDA Link 11/09/2023 - "Cardio-facio-cutaneous syndrome (CFCS) is a genetic disorder due to variants affecting genes coding key proteins of the Ras/MAPK signalling pathway. " 10/01/2007 - "Heterozygous gain-of-function mutations in various genes encoding proteins of the Ras-MAPK signalling cascade have been identified as the genetic basis of Noonan syndrome (NS) and cardio-facio-cutaneous syndrome (CFCS). " 07/01/2020 - "NS and other clinically overlapping conditions such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, or Costello syndrome, are caused by mutations in genes encoding proteins of the RAS-MAPKinases pathway. " 05/04/2022 - "Cardio-facio-cutaneous syndrome (CFCS) belongs to RASopathies, a group of conditions caused by mutations in genes encoding proteins of the rat sarcoma/mitogen-activated protein kinase (RAS/MAPK) pathway. "
9.	Phosphotransferases (Kinase)IBA 07/15/2009 - "Kinase-activating and kinase-impaired cardio-facio-cutaneous syndrome alleles have activity during zebrafish development and are sensitive to small molecule inhibitors." 08/01/2014 - "There is limited information available related to the perinatal course of cardiofaciocutaneous syndrome (CFC) compared to other syndromes within the Ras-MAP kinase pathway (rasopathies) such as Noonan and Costello syndrome. " 05/01/2016 - "The RASopathies, which include Noonan syndrome (NS) and Cardiofaciocutaneous syndrome (CFC), are autosomal dominant disorders with genetic heterogeneity associated with germline mutations of genes in the Ras/mitogen-activated protein kinase (MAPK; RAS-MAP kinase) pathway. "
10.	Anesthetics (Anesthetic Agents)IBA 01/01/2020 - "Anesthetic Management of a Pediatric Patient With Cardiofaciocutaneous Syndrome." 01/01/2021 - "Here, we describe a case of a 4-year old boy with cardiofaciocutaneous syndrome and rhinovirus-associated hypoxic acute respiratory failure who was successfully supported with NIV delivered by a simple anesthetic mask connected to a headgear by an in-house developed and 3D printed adaptor. "

Therapies and Procedures

1.	Therapeutics 12/04/2022 - "Analysis of the Oral Microbiome in a Patient with Cardiofaciocutaneous Syndrome and Severe Periodontal Disease: Impact of Systemic Antibiotic Therapy." 01/01/2016 - "Although vigabatrin has not been approved for use in Japan, the results in the present case suggest that this drug should be considered as an alternative therapy for cases of infantile spasms associated with syndromes involving cardiomyopathy or its potential risk factors, such as cardiofaciocutaneous syndrome. " 11/01/2018 - "Combined flecainide and sotalol therapy for multifocal atrial tachycardia in cardio-facio-cutaneous syndrome." 01/01/2016 - "Vigabatrin Therapy for Infantile Spasms in a Case of Cardiofaciocutaneous Syndrome with Cardiac Hypertrophy Developing during Adrenocorticotropic Hormone Treatment."
2.	Anesthesia 03/01/2021 - "Anesthesia management of pediatric dentistry patients with cardiofaciocutaneous syndrome: a case report." 04/01/2015 - "Anesthesia for a pediatric patient with cardiofaciocutaneous syndrome."
3.	Orthopedic Procedures 04/01/2015 - "We describe a 6-year-old child with cardiofaciocutaneous syndrome presenting for an orthopedic procedure. "
4.	Heart Transplantation (Grafting, Heart) 07/01/2007 - "Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome."
5.	Surgical Portasystemic Shunt (Portosystemic Shunt) 01/01/2022 - "Congenital extrahepatic portosystemic shunt: An unusual feature in cardio-facio-cutaneous syndrome."