label: Cardiospondylocarpofacial Syndrome
label_lc: cardiospondylocarpofacial syndrome
description: "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."