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cardiofaciocutaneous syndromeAn 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.
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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