Last update 08 May 2025

Forney Robinson Pascoe Syndrome

Basic Info

Synonyms
CARDIOSPONDYLOCARPOFACIAL SYNDROME, CSCF, Cardiospondylocarpofacial Syndrome
+ [12]
Introduction
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.

Analysis

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