Cardio-facio-cutaneous syndrome

Cardio-facio-cutaneous syndrome Relevant markers:

Abdominal circumference > 90th percentileBorderline ventriculomegaly (10-12 mm)Down-slanting palpebral fissuresEchogenic kidney/sFemur length < 10th percentileHead circumference > 95th percentileHypertelorismHypertrophic cardiomyopathyLong philtrumLow set ear/sLymphatic dysplasiaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPersistent right umbilical vein (PRUV)PolyhydramniosPosteriorly rotated ear/sPrefrontal edemaProminent foreheadPulmonary artery atresiaPulmonary valve stenosisRenalRhizomelia/short femurIncreased renal volume

Parents markers:

HeartInterventricular / interatrial septumKidneysMacrocephalyPyelectasis/hydronephrosisVentricular septal defect (VSD)

Involved genes:
(gene — definition — chromosome)

BRAF — V-RAF MURINE SARCOMA VIRAL ONCOGENE HOMOLOG B1 — 7q34, KRAS — V-KI-RAS2 KIRSTEN RAT SARCOMA VIRAL ONCOGENE HOMOLOG — 12p12.1, MAP2K1 — MITOGEN-ACTIVATED PROTEIN KINASE KINASE 1 — 15q22.31, MAP2K2 — MITOGEN-ACTIVATED PROTEIN KINASE KINASE 2 — 19p13.3

Other online databases:

OrphaNet, OMIM

References:

2006	Journal of medical Genetics	Review	Read on PubMed
2012	Indian J Dermatol	Case report	Read on PubMed
2014	Am J Med Genet A	Case series	Read on PubMed
2014	Am J Med Genet A	Review	Read on PubMed
2016	Am J Med Genet A	Case series	Read on PubMed
2016	Int J Mol Sci	Case report and review of prenatal literature	Read on PubMed