" /> Cardiospondylocarpofacial Syndrome - CISMeF





Preferred Label : Cardiospondylocarpofacial Syndrome;

NCIt synonyms : CSCF;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the MAP3K7 gene, encoding mitogen-activated protein kinase kinase kinase 7. It is characterized by growth retardation, short stature, failure to thrive, cardiac anomalies, and dysmorphic facial features.;

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30/07/2025


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