The cardiofaciocutaneous syndrome
Identifieur interne : 002320 ( Ncbi/Curation ); précédent : 002319; suivant : 002321The cardiofaciocutaneous syndrome
Auteurs : A. Roberts ; J. Allanson ; S K Jadico ; M I Kavamura ; J. Noonan ; J M Opitz ; T. Young ; G. NeriSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2006.
Abstract
The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward‐slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain‐of‐function mutations in four different genes
Url:
DOI: 10.1136/jmg.2006.042796
PubMed: 16825433
PubMed Central: 2563180
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<front><div type="abstract" xml:lang="en"><p>The cardiofaciocutaneous (CFC) syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. It is characterised by failure to thrive, relative macrocephaly, a distinctive face with prominent forehead, bitemporal constriction, absence of eyebrows, hypertelorism, downward‐slanting palpebral fissures often with epicanthic folds, depressed nasal root and a bulbous tip of the nose. The cutaneous involvement consists of dry, hyperkeratotic, scaly skin, sparse and curly hair, and cavernous haemangiomata. Most patients have a congenital heart defect, most commonly pulmonic stenosis and hypertrophic cardiomyopathy. The developmental delay usually is moderate to severe. The syndrome is caused by gain‐of‐function mutations in four different genes <italic>BRAF</italic>
,<italic> KRAS</italic>
, mitogen‐activated protein/extracellular signal‐regulated kinase <italic>MEK</italic>
<italic>1</italic>
and <italic>MEK2</italic>
, all belonging to the same RAS–extracellular signal‐regulated kinase (ERK) pathway that regulates cell differentiation, proliferation and apoptosis. The CFC syndrome is a member of a family of syndromes that includes the Noonan and Costello syndromes, presenting with phenotypic similarities. Noonan syndrome is caused by mutations in the protein tyrosine phosphatase SHP‐2 gene (<italic>PTPN11</italic>
), with a few people having a mutation in <italic>KRAS</italic>
. Costello syndrome is caused by mutations in <italic>HRAS</italic>
. The protein products of these genes also belong to the RAS–ERK pathway. Thus, the clinical overlap of these three conditions, which often poses a problem of differential diagnosis, is explained by their pathogenetic relatedness.</p>
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