cardiofaciocutaneous syndrome


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cardiofaciocutaneous syndrome

An autosomal dominant condition (OMIM:115150) characterised by:
• Heart defects—pulmonary stenosis, atrial septal defects, hypertrophic cardiomyopathy;
• Ectodermal defects—sparse, friable hair, hyperkeratotic skin lesions and a generalised ichthyosiform changes; and
• Noonan-like facies—high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, depressed nasal bridge and posteriorly angulated ears with prominent helices.

Molecular pathology
Defects of MAP2K2 on chromosome 19p13.3, which encodes mitogen-activated protein kinase 2, and KRAS on chromosome 12p12.1, which encodes the Kirsten rat sarcoma viral oncogene homolog, both have been linked to cardiofaciocutaneous syndrome.
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This signalling cascade is also involved in many other inherited conditions such as cardiofaciocutaneous syndrome (CFCS), LEOPARD syndrome (LS), Costello syndrome (CS), and type 1 neurofibromatosis (NF1) [11] (Figure 6).
On examination she had features highly suggestive of a RASopathy, but on account of the skin findings (sparse hair, glabellar capillary malformation, a large 4x 12 cm cafe-au-lait spot in her right flank, and two blue nevi in right temporal region and left groin), difficult to differentiate with certainty between CS and Cardiofaciocutaneous syndrome. However, HRAS mutation analysis demonstrated a common recurrent mutation (p.G12S), confirming the diagnosis of CS in this child at the age of 7 months (Figure 1(a)).
The genetic disorder discussed in the new study is called cardiofaciocutaneous syndrome (CFC), which is caused by a mutation in a gene called BRAF.
Malo said he has battled kidney cancer since 2002 and the couple's 6-year-old son suffers from a genetic disorder called cardiofaciocutaneous syndrome. Although he receives a retirement income from the town and Mrs.