Cardiospondylocarpofacial Syndrome

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - CSCF