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Article

The cardiofaciocutaneous syndrome.

Journal of medical genetics - 1 Nov 2006

Roberts A, Allanson J, Jadico S K, Kavamura M I, Noonan J, Opitz J M, Young T, Neri G

Abstract excerpt

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...

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Source

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Identifiers

PMID: 16825433
DOI: 10.1136/jmg.2006.042796
PMCID: PMC2563180

Genes

KRAS
BRAF
HRAS
PTPN11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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